(used for variant description)
(last modified January 3, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_012308.2 in the KDM2A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering KDM2A transcript NM_012308.2.
(upstream sequence)
. . g.5024
gagtctgacgggttcaaaatggcg c.-841
. . . . . . g.5084
gcggctgcttcagcggctcctcctgtgtgagggaaacaacacccctccccggcagcggcg c.-781
. . . . . . g.5144
gcggcggcggcggctctcggagcaccttcccagcggctgggcccgtggccgctctgtctt c.-721
. . . . . . g.5204
tcctgggcaggggacgctccgggaggaggggcaacgccagggggcccatcccccggaatc c.-661
. . . . . . g.5264
cctcttctgcgactggggagtagccggggggctcgtcccgcagcgcggagccagacctga c.-601
. . . . . . g.5324
gggggagacgcgaggggagccagggcccccatcccggcgcgccgcgccgctcccgccctg c.-541
. . . . . . g.5384
tccgccccccggggccggggcccgcgttccggggggccggggcggcgcggggagcctcgg c.-481
. . . . . . g.5444
gccggccggtctcagctgatcggccgctgctcccgcaggcgaccagcccctgctggccga c.-421
. . . . . . g.5504
gggcacggcgaggagggcgctccctgcggccggggccggcccggggctcgggcccgggct c.-361
. . . . . . g.5564
gctgaccgctggcctgggggaggcgggggcgccccgggctcggcgccgaggggtcgcgct c.-301
. . . . . . g.5624
cctctctcctgacgcctccgactcccggtctccaaagccagaagagaaggtttgattcag c.-241
. . . . . . g.5684
caactgtttgctcccttttcctggtcgctctgaccctctctggatactgggttgatccac c.-181
. . . . . . g.5744
ggaaaaaccgaagacgacgtttgggatttaattattcctctcagctttggaatcttttac c.-121
. . . . | 02 . . g.6988
ttctcacttggacaagaactcaagagcagaatctccg | tgttgcaatctggttcctaagga c.-61
. . . . . . g.7048
ggaagaggaaggcagccctggagtggtttctttacagtaatttcaacagaagagtgagag c.-1
. . . . | 03 . . g.65828
ATGGAACCCGAAGAAGAAAGGATTCGTTACAGCCAGAGATTG | CGTGGTACCATGCGACGA c.60
M E P E E E R I R Y S Q R L | R G T M R R p.20
. . . . . . g.65888
CGCTATGAAGATGATGGCATTTCAGATGATGAAATTGAAGGAAAAAGAACTTTTGACTTG c.120
R Y E D D G I S D D E I E G K R T F D L p.40
. . . . . . g.65948
GAAGAGAAACTGCACACCAACAAATATAATGCCAATTTTGTTACTTTTATGGAAGGAAAA c.180
E E K L H T N K Y N A N F V T F M E G K p.60
| 04 . . . . . . g.67110
G | ATTTTAATGTAGAGTATATTCAGCGGGGTGGCTTGAGAGATCCTCTGATTTTCAAGAAT c.240
D | F N V E Y I Q R G G L R D P L I F K N p.80
. . | 05 . . . . g.67617
TCTGATGGACTCGGAATAAA | AATGCCGGATCCAGACTTCACTGTGAATGATGTCAAAATG c.300
S D G L G I K | M P D P D F T V N D V K M p.100
| 06. . . . . . g.93294
TGTGTGG | GGAGTCGTCGCATGGTGGATGTCATGGACGTGAACACACAGAAAGGCATTGAA c.360
C V G | S R R M V D V M D V N T Q K G I E p.120
. . . . . . g.93354
ATGACCATGGCTCAGTGGACACGCTACTATGAGACCCCAGAGGAGGAGCGAGAGAAACTC c.420
M T M A Q W T R Y Y E T P E E E R E K L p.140
. . . . . . g.93414
TATAATGTCATCAGCCTCGAGTTTAGCCACACCAGGCTGGAGAATATGGTGCAGAGGCCC c.480
Y N V I S L E F S H T R L E N M V Q R P p.160
| 07 . . . . . . g.101125
TCCACG | GTGGATTTCATTGACTGGGTAGACAACATGTGGCCAAGGCACTTGAAGGAAAGC c.540
S T | V D F I D W V D N M W P R H L K E S p.180
. . . . . | 08 . g.101594
CAGACTGAATCAACAAATGCCATCTTGGAGATGCAGTACCCTAAAGTGCAGAA | GTACTGT c.600
Q T E S T N A I L E M Q Y P K V Q K | Y C p.200
. . . . . . g.101654
CTAATGAGTGTTCGAGGCTGCTATACTGACTTCCATGTGGACTTTGGTGGTACCTCTGTT c.660
L M S V R G C Y T D F H V D F G G T S V p.220
. . | 09. . . . g.103495
TGGTATCACATCCATCAAGGGGGAAAG | GTCTTCTGGCTCATCCCCCCTACAGCCCACAAC c.720
W Y H I H Q G G K | V F W L I P P T A H N p.240
. . . . . . g.103555
CTGGAGCTGTACGAGAATTGGCTGCTGTCAGGGAAACAGGGAGACATCTTTCTGGGTGAC c.780
L E L Y E N W L L S G K Q G D I F L G D p.260
. . . . . . g.103615
CGGGTATCAGATTGTCAGCGCATTGAGCTCAAGCAGGGCTATACCTTCGTCATTCCCTCA c.840
R V S D C Q R I E L K Q G Y T F V I P S p.280
| 10 . . . . . . g.105078
G | GCTGGATTCATGCTGTGTATACTCCTACAGACACATTAGTGTTTGGGGGCAATTTTTTG c.900
G | W I H A V Y T P T D T L V F G G N F L p.300
. . . . . | 11. g.113771
CATAGCTTCAACATCCCTATGCAGTTAAAAATATACAACATTGAAGATCGGACACGG | GTT c.960
H S F N I P M Q L K I Y N I E D R T R | V p.320
. . . . . . g.113831
CCAAATAAGTTTCGCTATCCATTCTACTATGAGATGTGTTGGTATGTGTTGGAGCGCTAT c.1020
P N K F R Y P F Y Y E M C W Y V L E R Y p.340
. . . . . . g.113891
GTGTACTGCATAACCAACCGTTCCCACCTAACTAAGGAATTTCAGAAAGAGTCCCTCAGC c.1080
V Y C I T N R S H L T K E F Q K E S L S p.360
| 12 . . . . . . g.117353
ATGG | ATTTGGAGTTAAATGGGTTGGAGTCTGGGAATGGGGATGAGGAAGCAGTGGATCGA c.1140
M D | L E L N G L E S G N G D E E A V D R p.380
. . . . . . g.117413
GAACCCCGACGCTTGAGCAGCAGGCGTTCTGTCCTCACTAGCCCTGTAGCGAATGGAGTC c.1200
E P R R L S S R R S V L T S P V A N G V p.400
. . . . . . g.117473
AACCTGGATTATGATGGACTGGGCAAAACCTGCCGAAGTCTTCCAAGTCTGAAGAAAACT c.1260
N L D Y D G L G K T C R S L P S L K K T p.420
. . . . . . g.117533
TTGGCTGGGGACTCATCTTCTGACTGTAGCCGGGGCTCCCACAATGGACAAGTGTGGGAT c.1320
L A G D S S S D C S R G S H N G Q V W D p.440
. . . . . . g.117593
CCCCAGTGTGCTCCCCGAAAGGACAGGCAAGTGCATCTGACCCATTTTGAGCTTGAAGGC c.1380
P Q C A P R K D R Q V H L T H F E L E G p.460
. . . . . . g.117653
CTTCGCTGCCTTGTAGATAAGTTGGAGTCTCTGCCACTGCACAAGAAATGTGTCCCCACA c.1440
L R C L V D K L E S L P L H K K C V P T p.480
. . . | 13 . . g.128761
GGGATAGAAGATGAAGATGCTCTCATTGCTGATGTAAAG | ATTTTGCTGGAGGAGCTTGCC c.1500
G I E D E D A L I A D V K | I L L E E L A p.500
. . . . . . g.128821
AACAGCGATCCCAAGTTAGCCCTCACTGGAGTTCCTATAGTACAGTGGCCAAAAAGGGAT c.1560
N S D P K L A L T G V P I V Q W P K R D p.520
| 14 . . . . . . g.130977
AAG | CTTAAATTCCCCACTCGGCCAAAGGTGCGGGTTCCTACCATCCCCATTACGAAGCCT c.1620
K | L K F P T R P K V R V P T I P I T K P p.540
. . . . . . g.131037
CACACTATGAAACCAGCTCCACGGTTAACACCTGTGAGGCCAGCTGCTGCCTCCCCGATT c.1680
H T M K P A P R L T P V R P A A A S P I p.560
. . . . . . g.131097
GTGTCAGGAGCCAGACGGAGACGAGTGCGATGTCGAAAATGCAAAGCCTGTGTGCAAGGA c.1740
V S G A R R R R V R C R K C K A C V Q G p.580
. . . . . . g.131157
GAGTGTGGTGTTTGCCACTACTGCAGAGACATGAAGAAGTTTGGGGGGCCTGGACGCATG c.1800
E C G V C H Y C R D M K K F G G P G R M p.600
. . . | 15 . . . g.131743
AAGCAGTCCTGTGTCCTCCGACAGTGCTTGGCA | CCCAGACTGCCTCACTCAGTCACATGT c.1860
K Q S C V L R Q C L A | P R L P H S V T C p.620
. . . . . . g.131803
TCCCTCTGTGGAGAGGTGGATCAGAATGAAGAGACACAAGACTTTGAGAAGAAACTCATG c.1920
S L C G E V D Q N E E T Q D F E K K L M p.640
. . . . | 16 . . g.134027
GAATGCTGTATCTGCAATGAGATTGTTCATCCTGGCTGCCTCCAG | ATGGACGGAGAGGGG c.1980
E C C I C N E I V H P G C L Q | M D G E G p.660
. . . . . . g.134087
TTGCTTAACGAAGAATTGCCAAATTGCTGGGAATGTCCAAAGTGCTACCAGGAGGACAGC c.2040
L L N E E L P N C W E C P K C Y Q E D S p.680
. | 17 . . . . . g.135862
TCGGAGAAAGCCCAG | AAGCGGAAAATGGAAGAGAGTGACGAAGAAGCTGTGCAAGCCAAA c.2100
S E K A Q | K R K M E E S D E E A V Q A K p.700
. . . . . . g.135922
GTCCTGCGGCCCCTGCGGAGCTGCGATGAGCCTCTCACGCCCCCGCCTCATTCACCCACT c.2160
V L R P L R S C D E P L T P P P H S P T p.720
. . . . . . g.135982
TCCATGCTGCAGCTCATCCATGACCCGGTTTCCCCCCGGGGTATGGTGACTCGGTCATCC c.2220
S M L Q L I H D P V S P R G M V T R S S p.740
. . . . . . g.136042
CCTGGGGCTGGCCCCAGCGACCACCACAGTGCCAGCCGCGATGAGCGCTTCAAACGGCGG c.2280
P G A G P S D H H S A S R D E R F K R R p.760
. . . . . . g.136102
CAGTTGCTGCGGCTGCAGGCCACAGAGCGCACCATGGTACGGGAAAAGGAGAACAATCCC c.2340
Q L L R L Q A T E R T M V R E K E N N P p.780
. . . . . . g.136162
AGCGGCAAAAAGGAGCTGTCTGAAGTTGAGAAAGCCAAGATCCGGGGATCGTACCTCACT c.2400
S G K K E L S E V E K A K I R G S Y L T p.800
. . . . . . g.136222
GTCACGCTACAGAGGCCCACCAAAGAGCTCCACGGGACATCCATTGTGCCCAAGCTGCAG c.2460
V T L Q R P T K E L H G T S I V P K L Q p.820
. . . . . . g.136282
GCCATCACGGCCTCCTCTGCCAACCTTCGCCATTCCCCCCGTGTGCTAGTGCAGCACTGC c.2520
A I T A S S A N L R H S P R V L V Q H C p.840
. . . . . . g.136342
CCAGCCCGAACCCCCCAGCGTGGGGATGAGGAGGGGCTGGGGGGAGAGGAGGAGGAAGAG c.2580
P A R T P Q R G D E E G L G G E E E E E p.860
. . . . . . g.136402
GAGGAGGAGGAGGAGGAAGATGACAGTGCAGAGGAGGGGGGTGCAGCCAGGCTGAATGGC c.2640
E E E E E E D D S A E E G G A A R L N G p.880
. . . . . . g.136462
CGGGGCAGTTGGGCTCAGGATGGAGACGAAAGCTGGATGCAGCGGGAGGTCTGGATGTCT c.2700
R G S W A Q D G D E S W M Q R E V W M S p.900
. . . . . . g.136522
GTCTTCCGCTACCTCAGCCGCAGAGAACTTTGTGAATGTATGCGAGTGTGCAAGACGTGG c.2760
V F R Y L S R R E L C E C M R V C K T W p.920
| 18 . . . . . g.138477
TATAAATG | GTGCTGCGACAAGAGACTTTGGACAAAAATTGACTTGAGTAGGTGTAAGGCC c.2820
Y K W | C C D K R L W T K I D L S R C K A p.940
. . . . . . g.138537
ATTGTGCCCCAGGCCCTCAGTGGCATCATCAAGAGGCAGCCAGTCAGCCTTGACCTCAGT c.2880
I V P Q A L S G I I K R Q P V S L D L S p.960
. . . . . | 19 . g.139192
TGGACCAACATCTCTAAAAAGCAACTGACATGGCTCGTCAATAGGCTGCCAG | GACTGAAA c.2940
W T N I S K K Q L T W L V N R L P G | L K p.980
. . . . . . g.139252
GACCTCCTCCTAGCAGGCTGCTCCTGGTCTGCAGTCTCTGCCCTCAGCACCTCCAGCTGC c.3000
D L L L A G C S W S A V S A L S T S S C p.1000
. . . . . . g.139312
CCCCTTCTCAGGACCCTTGATCTTCGGTGGGCAGTAGGAATCAAGGACCCTCAAATTCGG c.3060
P L L R T L D L R W A V G I K D P Q I R p.1020
. . . | 20 . . . g.139963
GACTTGCTTACTCCACCGGCTGATAAACCAG | GTCAGGACAATCGCAGCAAGCTCCGGAAC c.3120
D L L T P P A D K P G | Q D N R S K L R N p.1040
. . . . . . g.140023
ATGACCGACTTCCGGCTGGCAGGCCTTGACATCACAGATGCCACGCTTCGCCTCATAATT c.3180
M T D F R L A G L D I T D A T L R L I I p.1060
. . . . . . g.140083
CGCCACATGCCCCTCCTGTCTCGACTCGACCTCAGTCACTGCAGCCACCTTACAGATCAG c.3240
R H M P L L S R L D L S H C S H L T D Q p.1080
. . . . . . g.140143
TCCTCCAATCTACTCACTGCTGTCGGGTCTTCCACTCGCTACTCTCTCACAGAGCTCAAT c.3300
S S N L L T A V G S S T R Y S L T E L N p.1100
| 21. . . . . . g.140658
ATGGCAG | GTTGCAATAAATTGACAGACCAGACCCTGATCTACCTACGGCGCATTGCCAAC c.3360
M A G | C N K L T D Q T L I Y L R R I A N p.1120
. . . . . . g.140718
GTCACCTTGATCGACCTTCGAGGATGCAAGCAGATCACTCGAAAAGCCTGCGAGCACTTC c.3420
V T L I D L R G C K Q I T R K A C E H F p.1140
. . . . . . g.140778
ATCTCAGACTTGTCCATCAACAGCCTCTACTGCCTGTCTGACGAGAAGCTGATACAGAAG c.3480
I S D L S I N S L Y C L S D E K L I Q K p.1160
g.140787
ATCAGCTAA c.3489
I S X p.1162
. . . . . . g.140847
gacacacccagcccagattcaacaggaaaccgatcttcccctgactccccaccgaggaga c.*60
. . . . . . g.140907
gcctctcctcgaccctgcacgggctctgaggccagcgtcacactccctctctgctctcct c.*120
. . . . . . g.140967
gtcccttgagcccttcctctacaggtggggcagagagggtggtggacaccaggcttatct c.*180
. . . . . . g.141027
gcctgctcctctccctcctaaggaaaagggagtagcagattgatctgaggggaaagcaca c.*240
. . . . . . g.141087
ggctgtgctgtcgaggcgcctgctcgcttactcgcctgccaggaggccgggctctcagtt c.*300
. . . . . . g.141147
tggggtgtttgtgcaaccttcatctgcactgggccctgtgcccctcctccccatccatgg c.*360
. . . . . . g.141207
tccccagcagtgcctggttctgagcaaactcccagggaagaaaacggccctgtctccatg c.*420
. . . . . . g.141267
gccaggttcttgtggtgtccagtgcgcgtctctcctccatcacactctcccggcttgcgc c.*480
. . . . . . g.141327
aggaggggccagcagccccaggagtcccagacccgtgccgatcacactggtgctgttgag c.*540
. . . . . . g.141387
atctcccaaacctcacgtccttaactgtgctctccctcctttcctctcccttgagcttgg c.*600
. . . . . . g.141447
ttctgcccagcactcgtgcttgttcacataattaggtttcccaccccagcctacccgact c.*660
. . . . . . g.141507
tacttgctagtctctatgaggtccttattgcacttattggggttgaagctcttcagagga c.*720
. . . . . . g.141567
gctggaactgtctaccccagggacacacccatttcgttgctacccaagtggattctgaga c.*780
. . . . . . g.141627
caggcaccatctccttgttccccctctctcttttgcctcccactgactgcccttttccat c.*840
. . . . . . g.141687
gtgtcttcattctgcctgaagaaggctttcccaggatgcacgtcctcagagggagcagcc c.*900
. . . . . . g.141747
tatctcccccaagctggaggcggcagaggactgggccaagccccaacctgcctcccagcc c.*960
. . . . . . g.141807
aggctcctccaggcctctggtttagcggagccccctgagcccaggcctgtgtctagcccc c.*1020
. . . . . . g.141867
agtggctcactgaactttcagggcagtcagggggtcctgcttagaagccagtcaccagcc c.*1080
. . . . . . g.141927
ctctgcctgcagccatggaagggggtgtgcacgtgcctctgtgtgtgtggctgagtgtat c.*1140
. . . . . . g.141987
tctgcgcgtgtgtgtggagggagggagggaggggagcatggtgtctcccgctccaccgcc c.*1200
. . . . . . g.142047
ctttgttgagccccatcagctgcccccttttactttgcattgaacggcctgtccaaagat c.*1260
. . . . . . g.142107
cctctctctagggcagcagagagctttttgcactttaaaaaaaaaaagaaagaaagaaag c.*1320
. . . . . . g.142167
gtcggaatttcttttgggtcaatatttttaagtgtgtgaggagatgctcagtagcagcag c.*1380
. . . . . . g.142227
cctatggcaagagcttataaatgattgatgcaaatttgcactctgctccccctctgtaag c.*1440
. . . . . . g.142287
gatactgatagcacaacctcttccccccaccccgccccgccttttggtcgtccatccctg c.*1500
. . . . . . g.142347
tccctttctggccctcttcctgtagcccagtctcaggctttcctcttcctgaagccctac c.*1560
. . . . . . g.142407
agagttagggaatggagcccaggcaccaggggtctaaagtgtgagccactgagaagagag c.*1620
. . . . . . g.142467
acgccaactgcacccttgccacttccaaagcaatagaggcagagtggtcccctctttgcc c.*1680
. . . . . . g.142527
acctaggccagttttgaccctggcattaactggccttagaagaaactggatcctggtagg c.*1740
. . . . . . g.142587
gggtggcattttgtttgtttcttccaatctgctgaatcttttgactgcaccttacaaaca c.*1800
. . . . . . g.142647
gcagtctgctcccatgaccctctgcccacttccattggtctccaggccccaataatctgg c.*1860
. . . . . . g.142707
ggttgaaactttgaggaaatgccagtgacttattccagagtgcctcagttaggggaactt c.*1920
. . . . . . g.142767
ctctgtaaagaaccctgggtattgagcaaaaaccttattatcgttaatgacctataattg c.*1980
. . . . . . g.142827
gaagcttcctgcctttttctttggttgctcctgtggaaaatactgaaaagattactttgt c.*2040
. . . . . . g.142887
tttattttgttgtctttttataaaaggggaggtggagagaccccttcagagcagggattg c.*2100
. . . . . . g.142947
tgccgggagagtgcctctgactttgggacatttcatccacagaaatttccaagccaatgg c.*2160
. . . . . . g.143007
tttcttttgggttttggtttttatgtttgttttttggggtttggaaaaacatgcattttt c.*2220
. . . . . . g.143067
accgtgcacgtaaattggtcagcagaaaagggagcccagaaaaggcagcagatggaccat c.*2280
. . . . . . g.143127
gcccttgctgggttttccttttctttgggactgtgaggggaaatggtttttagaggtgag c.*2340
. . . . . . g.143187
ggttggtccatgtggaggaaagaagtgtctctgttgggggacagaggaacctggggagtc c.*2400
. . . . . . g.143247
catcgcatgtcctacaatctgctcttagacacggccttgccaggagagcctgccctcaga c.*2460
. . . . . . g.143307
ctgcaggaccagaacccctgcctccatctttccaagcaccggggcgaaaaaccacaaagg c.*2520
. . . . . . g.143367
aaaggaagaaaatttatatatatataatataaaatcacttggtgattaaaaaaataactg c.*2580
. . . . . . g.143427
ctccataaataaaactcctaaagtcacttatgtttaaagggtttggttgtgttttttgtt c.*2640
. . . . . . g.143487
tttcggagaaatattgtaaatatatatttttttgttgctgatttagagtcaatctccaat c.*2700
. . . . . . g.143547
gttgtgctaaaaagtttaaattaaatgtaagcattaaggggataagtcttatgctatctc c.*2760
. . . . . . g.143607
agttgacacattgaggttattttgggccagagaaggaggaagctagttggactttgtttt c.*2820
. . . . . . g.143667
gttttccaaaagttctccactattggttttagagagagcaaggacatctttcctctgaca c.*2880
. . . . . . g.143727
cgtgggaatgggtgatatttgtgtaataaaatttttaaaagacaaaaaaagaaatagcct c.*2940
. . . . . . g.143787
ccaatgggaaatattttaatttaggttttgtttttgtttgggggtttttgtttttttaaa c.*3000
. . g.143814
aaaataaaaaggctttaaaaacaaaaa c.*3027
(downstream sequence)
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