(used for variant description)
(last modified May 18, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_012216.3 in the MID2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011907.1, covering MID2 transcript NM_012216.3.
(upstream sequence)
. . . g.5033
gtttctccggtcactcctgccaggggagaagac c.-541
. . . . . . g.5093
atgtaaacgtgcctccagaggaagggctgggggagctgggagtggcgggggcggcggaag c.-481
. . . . . . g.5153
gtgagcctgggaaggtggccgagcaccccttcttcttgggcccttcccagtgctcccttg c.-421
. . . . . . g.5213
gggtgtcagccccagccccgtttgcccccactccgcctcccttttggaagggattgcctt c.-361
. . . . . . g.5273
ttttttcctctgcggcggcggaaatgacagtgtggtgctgccgtggtgtcatggtgctgc c.-301
. . . . . . g.5333
ccctggactgaggggcgaaaactcttaagtttagctcgggaggcccagctgcggtagcat c.-241
. . . . . . g.5393
cgcggccgccgtgctgtcccctgcggggcgcgcgggctggcggatcccggctgctgcgcg c.-181
. . . . . . g.5453
gcgtcggcgacggtagcggcagcggcggcgaaggcgggcggcggcctacagtggtagcgg c.-121
. . . . . . g.5513
cggcggcggcgaccggggcccgggagctcgcgccggagcccgagccaacccgctgcggag c.-61
. . . . . . g.5573
gcagacgagagcccagcgccctcgagcgagcggaggagatggctggcacctgggaacgct c.-1
| 02 . . . . . . g.19872
ATGG | GTGAAAGCCCAGCCTCCGTGGTTCTTAATGCCTCAGGAGGACTATTTTCACTAAAG c.60
M G | E S P A S V V L N A S G G L F S L K p.20
. . . . . . g.19932
ATGGAAACACTGGAGTCTGAATTGACCTGTCCAATCTGCCTAGAGTTGTTTGAAGACCCC c.120
M E T L E S E L T C P I C L E L F E D P p.40
. . . . . . g.19992
CTTCTGCTCCCTTGTGCTCACAGCCTCTGCTTCAGCTGTGCCCATCGCATTTTGGTATCA c.180
L L L P C A H S L C F S C A H R I L V S p.60
. . . . . . g.20052
AGCTGCAGCTCTGGTGAATCCATTGAACCCATTACTGCTTTCCAGTGTCCTACCTGCAGG c.240
S C S S G E S I E P I T A F Q C P T C R p.80
. . . . . . g.20112
TATGTTATCTCGCTGAACCACCGGGGCCTGGATGGCCTCAAGAGGAATGTGACTCTGCAG c.300
Y V I S L N H R G L D G L K R N V T L Q p.100
. . . . . . g.20172
AACATTATTGATCGCTTCCAGAAGGCTTCAGTCAGTGGGCCCAATTCCCCTAGTGAGAGC c.360
N I I D R F Q K A S V S G P N S P S E S p.120
. . . . . . g.20232
CGCCGGGAAAGGACTTACAGGCCCACCACTGCCATGTCTAGCGAGCGAATTGCTTGCCAA c.420
R R E R T Y R P T T A M S S E R I A C Q p.140
. . . . . . g.20292
TTCTGTGAGCAGGACCCGCCAAGGGATGCAGTAAAAACATGCATCACCTGTGAGGTCTCC c.480
F C E Q D P P R D A V K T C I T C E V S p.160
. . . . . . g.20352
TACTGTGACCGTTGCCTGCGGGCCACGCACCCCAACAAGAAACCTTTCACCAGCCACCGC c.540
Y C D R C L R A T H P N K K P F T S H R p.180
. . . . . . g.20412
CTGGTGGAACCAGTGCCAGACACACATCTTCGAGGGATCACCTGCCTGGACCATGAGAAT c.600
L V E P V P D T H L R G I T C L D H E N p.200
. . . . . . g.20472
GAGAAAGTGAACATGTACTGTGTATCTGATGACCAATTGATCTGTGCCTTATGCAAACTG c.660
E K V N M Y C V S D D Q L I C A L C K L p.220
. . . . . . g.20532
GTGGGTCGTCACCGAGACCATCAGGTCGCATCCCTGAATGATCGATTTGAGAAACTCAAG c.720
V G R H R D H Q V A S L N D R F E K L K p.240
| 03 . . . . . . g.33815
| CAAACTCTGGAGATGAACCTCACCAACCTGGTTAAGCGCAACAGCGAACTAGAAAATCAA c.780
| Q T L E M N L T N L V K R N S E L E N Q p.260
. . . | 04 . . . g.83128
ATGGCCAAACTAATACAGATCTGCCAGCAGGTTGAG | GTGAATACTGCTATGCATGAGGCA c.840
M A K L I Q I C Q Q V E | V N T A M H E A p.280
. . . . . . g.83188
AAACTTATGGAAGAATGTGACGAGTTGGTAGAGATCATCCAGCAGAGGAAGCAAATGATC c.900
K L M E E C D E L V E I I Q Q R K Q M I p.300
. . | 05 . . . . g.84660
GCTGTCAAAATCAAAGAGACAAAG | GTTATGAAACTGAGAAAGTTGGCACAGCAGGTTGCT c.960
A V K I K E T K | V M K L R K L A Q Q V A p.320
. . . . . . g.84720
AATTGCCGCCAGTGTCTTGAACGGTCAACAGTCCTCATCAACCAAGCTGAGCATATCCTG c.1020
N C R Q C L E R S T V L I N Q A E H I L p.340
. . . . . | 06 . g.95155
AAAGAAAATGACCAGGCACGGTTTCTACAGTCTGCAAAAAATATTGCTGAGAG | GGTCGCT c.1080
K E N D Q A R F L Q S A K N I A E R | V A p.360
. . . . . . g.95215
ATGGCAACTGCATCTTCTCAAGTTCTGATTCCAGACATCAATTTTAATGATGCCTTTGAA c.1140
M A T A S S Q V L I P D I N F N D A F E p.380
. . . . . . g.95275
AACTTTGCTTTAGATTTTTCCAGAGAAAAGAAACTGCTAGAGGGGTTAGATTATTTAACA c.1200
N F A L D F S R E K K L L E G L D Y L T p.400
| 07 . . . . . . g.96711
G | CCCCAAACCCACCATCTATCCGAGAAGAACTCTGTACTGCCTCCCATGACACCATTACA c.1260
A | P N P P S I R E E L C T A S H D T I T p.420
. . . . . . g.96771
GTCCACTGGATCTCGGATGATGAGTTCAGCATCAGCTCCTATGAGCTTCAGTACACCATA c.1320
V H W I S D D E F S I S S Y E L Q Y T I p.440
. . . . . . g.96831
TTCACTGGCCAGGCTAACTTCATCAGTAAGTCATGGTGTAGTTGGGGCCTGTGGCCAGAG c.1380
F T G Q A N F I S K S W C S W G L W P E p.460
. . . . . | 08 . g.103494
ATAAGGAAATGTAAGGAAGCAGTAAGCTGCTCAAGATTGGCCGGGGCGCCACGAG | GCCTG c.1440
I R K C K E A V S C S R L A G A P R G | L p.480
. . . . . . g.103554
TATAATTCAGTAGACAGCTGGATGATTGTTCCCAACATTAAACAGAACCATTACACAGTG c.1500
Y N S V D S W M I V P N I K Q N H Y T V p.500
. . . . . . g.103614
CATGGACTCCAGAGCGGGACTCGCTACATCTTCATCGTTAAAGCCATAAACCAAGCCGGC c.1560
H G L Q S G T R Y I F I V K A I N Q A G p.520
. . . | 09. . . g.105263
AGCCGGAACAGTGAACCTACCCGACTAAAAACAAACA | GCCAACCCTTTAAATTGGATCCC c.1620
S R N S E P T R L K T N S | Q P F K L D P p.540
. . . . . . g.105323
AAAATGACTCACAAGAAGTTGAAGATCTCCAATGATGGATTGCAGATGGAGAAGGATGAA c.1680
K M T H K K L K I S N D G L Q M E K D E p.560
. . . . . . g.105383
AGCTCTCTAAAGAAGAGCCACACCCCAGAGAGGTTTAGTGGCACAGGGTGCTATGGGGCA c.1740
S S L K K S H T P E R F S G T G C Y G A p.580
. . . . . . g.105443
GCAGGAAATATATTCATTGACAGTGGCTGCCACTATTGGGAGGTGGTCATGGGTTCCTCA c.1800
A G N I F I D S G C H Y W E V V M G S S p.600
| 10 . . . . . . g.105872
ACATG | GTATGCAATTGGCATTGCCTACAAATCAGCTCCAAAGAATGAATGGATTGGCAAG c.1860
T W | Y A I G I A Y K S A P K N E W I G K p.620
. . . . . . g.105932
AATGCCTCCTCATGGGTCTTCTCTCGCTGCAATAGTAACTTCGTGGTGAGACACAACAAC c.1920
N A S S W V F S R C N S N F V V R H N N p.640
. . . . . . g.105992
AAGGAAATGCTGGTGGATGTGCCCCCACACCTGAAGCGTCTGGGTGTCCTCCTGGATTAT c.1980
K E M L V D V P P H L K R L G V L L D Y p.660
. . . . . . g.106052
GACAACAATATGCTGTCTTTCTATGACCCAGCTAACTCTCTCCATCTTCATACTTTTGAT c.2040
D N N M L S F Y D P A N S L H L H T F D p.680
. . . . . . g.106112
GTGACCTTCATTCTTCCAGTTTGTCCAACATTTACAATCTGGAACAAATCCCTAATGATC c.2100
V T F I L P V C P T F T I W N K S L M I p.700
. . . . . . g.106172
CTGTCTGGCTTGCCTGCCCCAGATTTTATTGATTACCCTGAGCGGCAGGAATGCAACTGC c.2160
L S G L P A P D F I D Y P E R Q E C N C p.720
. . . . g.106220
AGGCCTCAAGAATCCCCTTATGTTTCTGGGATGAAAACCTGTCATTAA c.2208
R P Q E S P Y V S G M K T C H X p.735
. . . . . . g.106280
gtttcaggagagtatataattcactggctctctagttcagcagttcttcccctcctacac c.*60
. . . . . . g.106340
ctaagttagcgttcaatatacgagacacaaaataaagtttgtttgaagcatccaaaataa c.*120
. . . . . . g.106400
ctagatattgcagatttaatttttgtgcattaaagcttgtatttgaattaatttattgag c.*180
. . . . . . g.106460
tttttcagaacaaattatctgagtagtctgcgttcaagccattggagaaaaatttagaaa c.*240
. . . . . . g.106520
atgcctctgttgtcattggagaattaaaaattcccaatgatttaagaatataaattatat c.*300
. . . . . . g.106580
tggaagcaattagggtaattctagttaaataatgtggaaaggtgccctgaataaggagct c.*360
. . . . . . g.106640
agcaagccagagcggggggtggtcagcctttctagtactggccagtttggccatgtagaa c.*420
. . . . . . g.106700
ttttgaacagtgtcaaattatcacatattatattttacttttgatgaaaacctatcatca c.*480
. . . . . . g.106760
agggtttgttaggaaaccatgaatgtgtatatgtaatatataaagtgaacatatatgtac c.*540
. . . . . . g.106820
tttatatatattcacttgtgtatgtatgtttatgcatattcactttatatattacatata c.*600
. . . . . . g.106880
cacaaaaaacttttttttccaaacaccacctcgaactagaacaaaaaactttttaatttg c.*660
. . . . . . g.106940
ctaatttgagtgagaaatatactggaagggaaaataagttacaccatccatttttgtccc c.*720
. . . . . . g.107000
ctaaaggaaacatcaaaatcaatcaacatttatttcctccctctatccatcattgccttc c.*780
. . . . . . g.107060
ctccctcctgtcacgcacacatacacatgcaaccatgacacagataatgggaagagcttt c.*840
. . . . . . g.107120
attggattagcagagatttacagacaagattgcacaagagatgctgttgctggatagaaa c.*900
. . . . . . g.107180
attgatcaggtagaagtgatgctacctacttgaggatggccatctgaattgttaaaaatt c.*960
. . . . . . g.107240
ctgtcatagactattaaaaaaaaagttttactactcccaagtacacacagttatgagaat c.*1020
. . . . . . g.107300
taggcttttaaaaagttgcacagtgaaggctctttaggaacctactttacttaatcagta c.*1080
. . . . . . g.107360
aaaattgagtattattgatgcaccaactattcccatataaatgtacttgctttttcagat c.*1140
. . . . . . g.107420
aaaacacttctgaagtgctcaagaatgtctgaaaacagtttgttttcttaaataggataa c.*1200
. . . . . . g.107480
ataatcattccttttgcaatcttgtttacagtattcattctcttagccaatccctccacg c.*1260
. . . . . . g.107540
caaatggagacaaacttcatcccagtcctaaccagtatagttgaagggaatggagccttg c.*1320
. . . . . . g.107600
tagtctatgatttttttttttaaatttccatcgaagggattggggatgtcagagagccag c.*1380
. . . . . . g.107660
agctttcccctttccaggagctaagttggcttcggaagtcttctgggatttgtgaaaata c.*1440
. . . . . . g.107720
ttactgttgtaaaattacaaagtggtagccataacaactccctcagattggagacttgaa c.*1500
. . . . . . g.107780
atgtcaaaactcccctcttcctttcccctagtttggtggatgctcatttattaattcatt c.*1560
. . . . . . g.107840
caataaactattagatgccaggtaccaaactactgccatgggagtgcacatattaacaaa c.*1620
. . . . . . g.107900
atgctctacctgctgccaaatggcttactattctgtggaagaaacaaagtatataatcct c.*1680
. . . . . . g.107960
ccccaataacagttatgtattgtttgttcacttaatgtggaaggcaagactgatgcagac c.*1740
. . . . . . g.108020
acacaaggaaggctcaaaaatataaatctagcagcaatgtcatcttttttgattttaaat c.*1800
. . . . . . g.108080
accatatgtgcttactgctaatcaggaaatgaacaacctcagtaaaattcatcagtgctg c.*1860
. . . . . . g.108140
gtaaatagtttgctgtagtggaaagctcataacctttggattcaaatgatcctagtttct c.*1920
. . . . . . g.108200
gtaccatttattagcgttgtgacctaggacaagtacctcacttctctgagcctgtttcct c.*1980
. . . . . . g.108260
cctctgtaaaataatgtctacttcacaaggctgtttcaaaggttaaaaaagatagcatat c.*2040
. . . . . . g.108320
gtaaactgtcttagctcagcgcttgacatttcctaagtgtgccataaatattaatctctt c.*2100
. . . . . . g.108380
tccttactcccagctccaatacagcgtaacagtgctttaaaatgtatgtccttcatttct c.*2160
. . . . . . g.108440
ccttcatttctcagtcacctttgtctcttccctagggcatatccccaaattcttaaacaa c.*2220
. . . . . . g.108500
aaaaaaatgatttttttccccttcatcaaacttttcactggctcccttagcacccagtag c.*2280
. . . . . . g.108560
aaggtcccaactccttacagagtctgggttttcatgtccctgtttgcttacacagcttaa c.*2340
. . . . . . g.108620
tcttttgccactttccccctcacattgattaaggtagccaagtttaactatttacacaac c.*2400
. . . . . . g.108680
tattcacacaagttattctctgggcctgcagcagaaacatgattaacaattttaatgccc c.*2460
. . . . . . g.108740
agagtaaacaacagaaatttttcttaaattaaaggaatagtgtgaaaatgctgtaagtac c.*2520
. . . . . . g.108800
agaaaatgcaacctccattccagtagaacaatttcctttgccttgtccttggctctccaa c.*2580
. . . . . . g.108860
aactgttcatttattgtggtgtcttttagattttagtgccctgggacaaagatctaattt c.*2640
. . . . . . g.108920
ccccaccctacttttgactctatcctggactacctttcctcacctctatctctctcaacc c.*2700
. . . . . . g.108980
agactaactctttattccttagacttgatgatgcatccctctttagagatccaaagacac c.*2760
. . . . . . g.109040
cccaagcatccccctctctcagcaataatcacattgtatagcagtgtttttcaaagtgtg c.*2820
. . . . . . g.109100
gtcctcacaccgcctgtgttagaatcacctttagtgtttgttaaaagaattgattttggg c.*2880
. . . . . . g.109160
ttcccactcctgacctaaccagaatatctgagaacataggcaggaatttacatttttgac c.*2940
. . . . . . g.109220
aagctcctcatgattctgatgcaccaaaaattttaatgaataatcatcttccctactaga c.*3000
. . . . . . g.109280
ctgaacaccttgagaggaaggactgtgtcttttattgttgttatattgttaatacctggc c.*3060
. . . . . . g.109340
acagtgcttggaacattagcttggctaatgtttattgaatgaatgtatgaatgaaaaaat c.*3120
. . . . . . g.109400
gcattatgaaagtttcctcttgtactctcatgttcgtagtgatgtttgttacttcctggg c.*3180
. . . . . . g.109460
cagaaaagcttggttactactccatttgagctgtattaattctattttgcagagatatca c.*3240
. . . . . . g.109520
aggctcctacataataaatgatcattgtcctcctcaaaaactctttggcagttatcttgg c.*3300
. . . . . . g.109580
ggaaatgtctttggagcatatggcaccattgttttcagtaacatttcagtcttgtcaaac c.*3360
. . . . . . g.109640
tttgttgtttgaaggtggatttacatttcggttatagccaaaaatcactcaaagctaagc c.*3420
. . . . . . g.109700
ctacttaaaaaagtggggaattaaactgggtttggagtaagcaatgaagtttgactctga c.*3480
. . . . . . g.109760
agtcccaaattctgagtcaaacagtgaaaaatgacttctaagatacaacatggtgacaaa c.*3540
. . . . . . g.109820
gtacttagtgggggtgcgatgggccccagatatttacttcagttaacttggcttttatag c.*3600
. . . . . . g.109880
aatcctggcaatgccatggaccttaagagaagtaattggctacctctagctaaacccagc c.*3660
. . . . . . g.109940
tggacaaagagaataggacttgtatttaacattttcaaagaaggtgactgcataagcttt c.*3720
. . . . . . g.110000
tgttgttgttgctctactcaacctgttctccacaactgtttctaccagaagattatttta c.*3780
. . . . . . g.110060
tgtctgcaatttatgcttgtttccactttttatattgtcttattgaagaaagcacaaaaa c.*3840
. . . . . . g.110120
taatcaaaaataaagtaaaacctgttttgagagtatgaaagaaattttaatgccacattg c.*3900
. . . . . . g.110180
aggttctggctacttgtaagtaagagtaactgcatctggatgtgtttttattatacaatt c.*3960
. . . . . . g.110240
ctatgtgtatctttagatgcagtgaaattcagattgcagcaaaatcacttatctgttctt c.*4020
. . . . . . g.110300
ttcggctaaaacactctaggtgaattttctaaacttccatggtttacatatttatatatg c.*4080
. . . . . . g.110360
actaccaagatggagcaatccacggatggacttttgaataaactcaaatatttgatactg c.*4140
. . . . . . g.110420
cttcctccaaggaatggagagtgtcaggcaggtaggtaagaaccactcctacacttattt c.*4200
. . . . . . g.110480
ctagctcctgaagccaactgcagccttggagccaatggctgtatttggctgtgtgttaca c.*4260
. . . . . . g.110540
ggttggccaaactgattgccatcaggtcagacaaaactgccttttatggtgtagtctgcc c.*4320
. . . . . . g.110600
agcttcagacatatgctgtattgttgttattggctagactatttattagactattgttgg c.*4380
. . . . . . g.110660
actattttttatcaaatgctttaccccacgcctgtttgtattgggagctctggaccaata c.*4440
. . . . . . g.110720
gtgtctctcctagtgacagaaatatgagcatctgtggattacacagcctcatccctctct c.*4500
. . . . . . g.110780
acaatattccagcccatccaaaatgctatattatgaattaaataaatatatatgtattca c.*4560
g.110784
tgaa c.*4564
(downstream sequence)
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