(used for variant description)
(last modified November 2, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001039469.2 in the MARK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering MARK2 transcript NM_001039469.2.
(upstream sequence)
. . . g.5039
aaacagagccgaagcttcgtcttcggaatcgaggaggag c.-541
. . . . . . g.5099
agcgcgtccccggggtttaccttcttcggctgtttccggaattcacccgtagtctgtggc c.-481
. . . . . . g.5159
cgggaggagaaggcgcgccccacctcccgtttctagccgcttcggatgtttccggctgct c.-421
. . . . . . g.5219
gccggcgaaaagagccgagggccggcggtggtggcggccatgttgggagcagcaggtccg c.-361
. . . . . . g.5279
gcggcggctgcctgtgtgccgggcgcggagcagtgccgctgagggcaggggaggagcgag c.-301
. . . . . . g.5339
gcaggcggccggctgcggcggcagagagtaggcggagcggcgcggcccggccgaaaggcg c.-241
. . . . . . g.5399
gcacagcccagccgggggtcgggggggtgcggtccggagccgctcggagccggcgcggcc c.-181
. . . . . . g.5459
tagcccgagcggcgcatccccgggctggcgtgagcggctgcccggcctccccgcaccccc c.-121
. . . . . . g.5519
ggccggggcccatgcggcgggtgctcctgctgtgagaagccccgcccggccgggctccgc c.-61
. . . . . . g.5579
gccttcccttccctcccttcctccaagcttctcggttccctcccccgagataccggcgcc c.-1
. . . . . | 02 . g.61237
ATGTCCAGCGCTCGGACCCCCCTACCCACGCTGAACGAGAGGGACACGGAGCAG | CCCACC c.60
M S S A R T P L P T L N E R D T E Q | P T p.20
. . . . . . g.61297
TTGGGACACCTTGACTCCAAGCCCAGCAGTAAGTCCAACATGATTCGGGGCCGCAACTCA c.120
L G H L D S K P S S K S N M I R G R N S p.40
. . . . . . g.61357
GCCACCTCTGCTGATGAGCAGCCCCACATTGGAAACTACCGGCTCCTCAAGACCATTGGC c.180
A T S A D E Q P H I G N Y R L L K T I G p.60
. . . . . | 03 . g.61658
AAGGGTAATTTTGCCAAGGTGAAGTTGGCCCGACACATCCTGACTGGGAAAGAG | GTAGCT c.240
K G N F A K V K L A R H I L T G K E | V A p.80
. . . . | 04 . g.64316
GTGAAGATCATTGACAAGACTCAACTGAACTCCTCCAGCCTCCAGAAA | CTATTCCGCGAA c.300
V K I I D K T Q L N S S S L Q K | L F R E p.100
. . . | 05. . . g.64703
GTAAGAATAATGAAGGTTTTGAATCATCCCAACATAG | TTAAATTATTTGAAGTGATTGAG c.360
V R I M K V L N H P N I V | K L F E V I E p.120
. . . . | 06 . . g.64852
ACTGAGAAAACGCTCTACCTTGTCATGGAGTACGCTAGTGGCG | GAGAGGTATTTGATTAC c.420
T E K T L Y L V M E Y A S G G | E V F D Y p.140
. . . . . | 07 . g.65130
CTAGTGGCTCATGGCAGGATGAAAGAAAAAGAGGCTCGAGCCAAATTCCGCCAG | ATAGTG c.480
L V A H G R M K E K E A R A K F R Q | I V p.160
. . . . . | 08 . g.65955
TCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAG | GCAGAAAAC c.540
S A V Q Y C H Q K F I V H R D L K | A E N p.180
. . . . . . g.66015
CTGCTCTTGGATGCTGATATGAACATCAAGATTGCAGACTTTGGCTTCAGCAATGAATTC c.600
L L L D A D M N I K I A D F G F S N E F p.200
. . . . . . g.66075
ACCTTTGGGAACAAGCTGGACACCTTCTGTGGCAGTCCCCCTTATGCTGCCCCAGAACTC c.660
T F G N K L D T F C G S P P Y A A P E L p.220
. . . . . . g.66135
TTCCAGGGCAAAAAATATGATGGACCCGAGGTGGATGTGTGGAGCCTAGGAGTTATCCTC c.720
F Q G K K Y D G P E V D V W S L G V I L p.240
. . . . | 09 . g.66643
TATACACTGGTCAGCGGATCCCTGCCTTTTGATGGACAGAACCTCAAG | GAGCTGCGGGAA c.780
Y T L V S G S L P F D G Q N L K | E L R E p.260
. . . . . . g.66703
CGGGTACTGAGGGGAAAATACCGTATTCCATTCTACATGTCCACGGACTGTGAAAACCTG c.840
R V L R G K Y R I P F Y M S T D C E N L p.280
. . . . | 10 . g.66864
CTTAAGAAATTTCTCATTCTTAATCCCAGCAAGAGAGGCACTTTAGAG | CAAATCATGAAA c.900
L K K F L I L N P S K R G T L E | Q I M K p.300
. . . . . . g.66924
GATCGATGGATGAATGTGGGTCACGAAGATGATGAACTAAAGCCTTACGTGGAGCCACTC c.960
D R W M N V G H E D D E L K P Y V E P L p.320
. . | 11 . . . g.67061
CCTGACTACAAGGACCCCCGGCGGACAG | AGCTGATGGTGTCCATGGGTTATACACGGGAA c.1020
P D Y K D P R R T E | L M V S M G Y T R E p.340
. . . . . . g.67121
GAGATCCAGGACTCGCTGGTGGGCCAGAGATACAACGAGGTGATGGCCACCTATCTGCTC c.1080
E I Q D S L V G Q R Y N E V M A T Y L L p.360
. . | 12 . . . . g.68309
CTGGGCTACAAGAGCTCCGAG | CTGGAAGGCGACACCATCACCCTGAAACCCCGGCCTTCA c.1140
L G Y K S S E | L E G D T I T L K P R P S p.380
. . . . . . g.68369
GCTGATCTGACCAATAGCAGCGCCCCATCCCCATCCCACAAGGTACAGCGCAGCGTGTCG c.1200
A D L T N S S A P S P S H K V Q R S V S p.400
. . . | 13 . . . g.68699
GCCAATCCCAAGCAGCGGCGCTTCAGCGACCAGG | CAGCTGGTCCTGCCATTCCCACCTCT c.1260
A N P K Q R R F S D Q A | A G P A I P T S p.420
. . . . . . g.68759
AATTCTTACTCTAAGAAGACTCAGAGTAACAACGCAGAAAATAAGCGGCCTGAGGAGGAC c.1320
N S Y S K K T Q S N N A E N K R P E E D p.440
. . . . . . g.68819
CGGGAGTCAGGGCGGAAAGCCAGCAGCACAGCCAAGGTGCCTGCCAGCCCCCTGCCCGGT c.1380
R E S G R K A S S T A K V P A S P L P G p.460
. . . | 14 . . . g.69157
CTGGAGAGGAAGAAGACCACCCCAACCCCCTCCACG | AACAGCGTCCTCTCCACCAGCACA c.1440
L E R K K T T P T P S T | N S V L S T S T p.480
. . . . . . g.69217
AATCGAAGCAGGAATTCCCCACTTTTGGAGCGGGCCAGCCTCGGCCAGGCCTCCATCCAG c.1500
N R S R N S P L L E R A S L G Q A S I Q p.500
. | 15 . . . . . g.70104
AATGGCAAAGACAG | CCTAACCATGCCAGGGTCCCGGGCCTCCACGGCTTCTGCTTCTGCC c.1560
N G K D S | L T M P G S R A S T A S A S A p.520
. . . . . . g.70164
GCAGTCTCTGCGGCCCGGCCCCGCCAGCACCAGAAATCCATGTCGGCCTCCGTGCACCCC c.1620
A V S A A R P R Q H Q K S M S A S V H P p.540
. . . . . | 16 . g.70862
AACAAGGCCTCTGGGCTGCCCCCCACGGAGAGTAACTGTGAGGTGCCGCGGCCCAG | CACA c.1680
N K A S G L P P T E S N C E V P R P S | T p.560
. . . . . . g.70922
GCCCCCCAGCGTGTCCCTGTTGCCTCCCCATCCGCCCACAACATCAGCAGCAGTGGTGGA c.1740
A P Q R V P V A S P S A H N I S S S G G p.580
. . . . . . g.70982
GCCCCAGACCGAACTAACTTCCCCCGGGGTGTGTCCAGCCGAAGCACCTTCCATGCTGGG c.1800
A P D R T N F P R G V S S R S T F H A G p.600
. . . . . . g.71042
CAGCTCCGACAGGTGCGGGACCAGCAGAATTTGCCCTACGGTGTGACCCCAGCCTCTCCC c.1860
Q L R Q V R D Q Q N L P Y G V T P A S P p.620
. . . . . . g.71102
TCTGGCCACAGCCAGGGCCGGCGGGGGGCCTCTGGGAGCATCTTCAGCAAGTTCACCTCC c.1920
S G H S Q G R R G A S G S I F S K F T S p.640
. | 17 . . . | 18 . . g.74351
AAGTTTGTACGCAG | AAATCTGTCTTTCAGGTTTGCCAGAAG | GAACCTGAATGAACCTGAA c.1980
K F V R R | N L S F R F A R R | N L N E P E p.660
. . | 19 . . . . g.74983
AGCAAAGACCGAGTGGAGACGCTCAG | ACCTCACGTGGTGGGCAGTGGCGGCAACGACAAA c.2040
S K D R V E T L R | P H V V G S G G N D K p.680
. . . . . . g.75043
GAAAAGGAAGAATTTCGGGAGGCCAAGCCCCGCTCCCTCCGCTTCACGTGGAGTATGAAG c.2100
E K E E F R E A K P R S L R F T W S M K p.700
. . . . . . g.75103
ACCACGAGCTCCATGGAGCCCAACGAGATGATGCGGGAGATCCGCAAGGTGCTGGACGCG c.2160
T T S S M E P N E M M R E I R K V L D A p.720
. . . . . . g.75163
AACAGCTGCCAGAGCGAGCTGCATGAGAAGTACATGCTGCTGTGCATGCACGGCACGCCG c.2220
N S C Q S E L H E K Y M L L C M H G T P p.740
. . . . . . g.75223
GGCCACGAGGACTTCGTGCAGTGGGAGATGGAGGTGTGCAAACTGCCGCGGCTCTCTCTC c.2280
G H E D F V Q W E M E V C K L P R L S L p.760
. . . . . . g.75283
AACGGGGTTCGATTTAAGCGGATATCGGGCACCTCCATGGCCTTCAAAAACATTGCCTCC c.2340
N G V R F K R I S G T S M A F K N I A S p.780
. . g.75310
AAAATAGCCAACGAGCTGAAGCTTTAA c.2367
K I A N E L K L X p.788
. . . . . . g.75370
caggctgccaggagcgggggcggcgggggcgggccagctggacgggctgccggccgctgc c.*60
. . . . . . g.75430
gccgccccacctgggcgagactgcagcgatggattggtgtgtctcccctgctggcacttc c.*120
. . . . . . g.75490
tcccctccctggcccttctcagttttctcttacatgtttgtggggggtgggagattgttc c.*180
. . . . . . g.75550
tccagcaccccacattcacccctgcccagagattcccccttctcctctcccctactggag c.*240
. . . . . . g.75610
gcaaaggaaggggagggtggatgggggggcagggctccccctcggtactgcggttgcaca c.*300
. . . . . . g.75670
gagtatttcgcctaaaccaagaaattttttattaccaaaaagaaaaaagaaaaaaaaaat c.*360
. . . . . . g.75730
cccagcggccacctttcctccctgccccattgggacagtcgagactggatctgtggggtt c.*420
. . . . . . g.75790
tcccgggagggtggctcagggctggaacactctcaggcaagagtggtggagctcccgtca c.*480
. . . . . . g.75850
ggccctccgccaggcccactgtgggcttctcccctctcctccctccttcccctccaagca c.*540
. . . . . . g.75910
aaccaccagaggtggccttcccctgacctcaggcccctgggctggaggcctgggcggtgg c.*600
. . . . . . g.75970
ggcagggggcgggggtgctgcgcagccctgcagtgggtggggctgggggctgctccgggg c.*660
. . . . . . g.76030
ctgctgaggctggagggccggcacaaggctccgcctccctccacactgtaccctctgccc c.*720
. . . . . . g.76090
ctcctccccagagctgggcatttccttccacaagctgctgtggggacgtgtgttccctca c.*780
. . . . . . g.76150
aagtctgtgccatcttctcccacccctcccgggtagaaggaggggctgaccccagggctg c.*840
. . . . . . g.76210
ggagaggggaggggactggagggcagactggcttctcggtccccagggggccgcttgggc c.*900
. . . . . . g.76270
tgttggtctccagagcagggccactgggcactctgtgatgggggagcctttgtctgaaag c.*960
. . . . . . g.76330
cacagccccctcgcccttcctctccccatggcttccccttcattggcattaatctgggca c.*1020
. . . . . . g.76390
ccagctctctccatagcagtgacttccctcaccactctcatctctcagccttgccttttc c.*1080
. . . . . . g.76450
ttcctgacactgtcgccccctcctctcaggagacactgccgagggccacctggcagaagg c.*1140
. . . . . . g.76510
ctgagttaggcagcagggccgggagcgtctgccctccacagggtgggggacagataggct c.*1200
. . . . . . g.76570
aagcgactcccagcttgctaccctcagtggccagtgtgggcgtgggcggtttggggcgct c.*1260
. . . . . . g.76630
tggctggtggtggccactgcatcccttaatttatttctctgctgtttctgttcttgagaa c.*1320
. . . . . . g.76690
attgggggtgggagtcctacacagaggctgcccctaccctcacctgagttgtacattttt c.*1380
. . . . . . g.76750
ttgtgatgggttttattttttattattttattttattttttttttttttgatttatgatg c.*1440
. . . . . . g.76810
actccacccctcttcatcacccccgctcccaggccaggctcagcgattaagccgagccct c.*1500
. . . . . . g.76870
tgcgtcctaggaaggggccttgccaacctcagccctcctgccccacactcctactgcggc c.*1560
. . . . . . g.76930
tcagaccaagggctccccctccctcccttcccccctcctgccctatggaacagcccgggt c.*1620
. . . . . . g.76990
gctctgagggggctgggagggcatggcttggctcccaaagggggtaggggcccggggcac c.*1680
. . . . . . g.77050
ccaggcaaggtggcccctccccgtctagccccctcctccccaaccctgcacttagtttct c.*1740
. . . . g.77093
cctctggatcaaacacgtaataaagagaatgtttggaatctga c.*1783
(downstream sequence)
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