(used for variant description)
(last modified November 28, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002397.4 in the MEF2C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering MEF2C transcript NM_002397.4.
(upstream sequence)
. . . . . g.25693
gagctgttctccttttcccattcgtcttctgtcacttccttcctggacgcagtt c.-601
. . . . . . g.25753
ttctggacgagtctggttacttttaatccgaccggccgctgagagccactttctcctcct c.-541
. . . . . . g.25813
cctcctcctcctccttctcttcctcctccttcttcctcctcctcctcctcttccgagcgg c.-481
. . . . . . g.25873
cctcggcgcgcgcgaatgcgcggccccgcgccccccccctcgcgcgcgctcccctcgcgc c.-421
. . . . . . g.25933
gcgcgcacacacgcacacatcgtctccagctctctgctcgctctgctcgcagtcacagac c.-361
. . . . . . g.25993
acttgagcacacgcgtacacccagacatcttcgggctgctattggattgactttgaaggt c.-301
. . . . . . g.26053
tctgtgtgggtcgccgtggctgcatgtttgaatcaggtggagaagcacttcaacgctgga c.-241
. . . . . . g.26113
cgaagtaaagattattgttgttattttttttttctctctctctctctcttaagaaaggaa c.-181
. . . . | 02. . g.85197
aatatcccaaggactaatctgatcgggtcttccttcat | caggaacgaatgcaggaatttg c.-121
. . . . . . g.85257
ggaactgagctgtgcaagtgctgaagaaggagatttgtttggaggaaacaggaaagagaa c.-61
. . . . . . g.85317
agaaaaggaaggaaaaaatacataatttcagggacgagagagagaagaaaaacggggact c.-1
. . . . . | 03 . g.104310
ATGGGGAGAAAAAAGATTCAGATTACGAGGATTATGGATGAACGTAACAGACAG | GTGACA c.60
M G R K K I Q I T R I M D E R N R Q | V T p.20
. . . . . . g.104370
TTTACAAAGAGGAAATTTGGGTTGATGAAGAAGGCTTATGAGCTGAGCGTGCTGTGTGAC c.120
F T K R K F G L M K K A Y E L S V L C D p.40
. . . . . . g.104430
TGTGAGATTGCGCTGATCATCTTCAACAGCACCAACAAGCTGTTCCAGTATGCCAGCACC c.180
C E I A L I I F N S T N K L F Q Y A S T p.60
. . . . . . g.104490
GACATGGACAAAGTGCTTCTCAAGTACACGGAGTACAACGAGCCGCATGAGAGCCGGACA c.240
D M D K V L L K Y T E Y N E P H E S R T p.80
. | 04 . . . . g.147819
AACTCAGACATCGTGGAG | ACGTTGAGAAAGAAGGGCCTTAATGGCTGTGACAGCCCAGAC c.300
N S D I V E | T L R K K G L N G C D S P D p.100
. . . . . . g.147879
CCCGATGCGGACGATTCCGTAGGTCACAGCCCTGAGTCTGAGGACAAGTACAGGAAAATT c.360
P D A D D S V G H S P E S E D K Y R K I p.120
. . . . | 05 . . g.157080
AACGAAGATATTGATCTAATGATCAGCAGGCAAAGATTGTGT | GCTGTTCCACCTCCCAAC c.420
N E D I D L M I S R Q R L C | A V P P P N p.140
. . . . . . g.157140
TTCGAGATGCCAGTCTCCATCCCAGTGTCCAGCCACAACAGTTTGGTGTACAGCAACCCT c.480
F E M P V S I P V S S H N S L V Y S N P p.160
. . . . . . g.157200
GTCAGCTCACTGGGAAACCCCAACCTATTGCCACTGGCTCACCCTTCTCTGCAGAGGAAT c.540
V S S L G N P N L L P L A H P S L Q R N p.180
. . . . | 06 . g.159999
AGTATGTCTCCTGGTGTAACACATCGACCTCCAAGTGCAGGTAACACAG | GTGGTCTGATG c.600
S M S P G V T H R P P S A G N T G | G L M p.200
. . . | 07. . . g.177227
GGTGGAGACCTCACGTCTGGTGCAGGCACCAGTGCAG | GGAACGGGTATGGCAATCCCCGA c.660
G G D L T S G A G T S A G | N G Y G N P R p.220
. . . . . . g.177287
AACTCACCAGGTCTGCTGGTCTCACCTGGTAACTTGAACAAGAATATGCAAGCAAAATCT c.720
N S P G L L V S P G N L N K N M Q A K S p.240
. . . . . . g.177347
CCTCCCCCAATGAATTTAGGAATGAATAACCGTAAACCAGATCTCCGAGTTCTTATTCCA c.780
P P P M N L G M N N R K P D L R V L I P p.260
. . . | 08 . . | 09 . g.179764
CCAGGCAGCAAGAATACGATGCCATCAGTG | TCTGAGGATGTCGACCTGCTTTTG | AATCAA c.840
P G S K N T M P S V | S E D V D L L L | N Q p.280
. . . . . . g.179824
AGGATAAATAACTCCCAGTCGGCTCAGTCATTGGCTACCCCAGTGGTTTCCGTAGCAACT c.900
R I N N S Q S A Q S L A T P V V S V A T p.300
. . . . . . g.179884
CCTACTTTACCAGGACAAGGAATGGGAGGATATCCATCAGCCATTTCAACAACATATGGT c.960
P T L P G Q G M G G Y P S A I S T T Y G p.320
| 10 . . . . . . g.180533
ACCG | AGTACTCTCTGAGTAGTGCAGACCTGTCATCTCTGTCTGGGTTTAACACCGCCAGC c.1020
T E | Y S L S S A D L S S L S G F N T A S p.340
. . . . . . g.180593
GCTCTTCACCTTGGTTCAGTAACTGGCTGGCAACAGCAACACCTACATAACATGCCACCA c.1080
A L H L G S V T G W Q Q Q H L H N M P P p.360
. . | 11 . . . . g.186220
TCTGCCCTCAGTCAGTTGGG | AGCTTGCACTAGCACTCATTTATCTCAGAGTTCAAATCTC c.1140
S A L S Q L G | A C T S T H L S Q S S N L p.380
. . . . . . g.186280
TCCCTGCCTTCTACTCAAAGCCTCAACATCAAGTCAGAACCTGTTTCTCCTCCTAGAGAC c.1200
S L P S T Q S L N I K S E P V S P P R D p.400
. . . . . . g.186340
CGTACCACCACCCCTTCGAGATACCCACAACACACGCGCCACGAGGCGGGGAGATCTCCT c.1260
R T T T P S R Y P Q H T R H E A G R S P p.420
. . . . . . g.186400
GTTGACAGCTTGAGCAGCTGTAGCAGTTCGTACGACGGGAGCGACCGAGAGGATCACCGG c.1320
V D S L S S C S S S Y D G S D R E D H R p.440
. . . . . . g.186460
AACGAATTCCACTCCCCCATTGGACTCACCAGACCTTCGCCGGACGAAAGGGAAAGTCCC c.1380
N E F H S P I G L T R P S P D E R E S P p.460
. . . . g.186502
TCAGTCAAGCGCATGCGACTTTCTGAAGGATGGGCAACATGA c.1422
S V K R M R L S E G W A T X p.473
. . . . . . g.186562
tcagattattacttactagtttttttttttttcttgcagtgtgtgtgtgtgctatacctt c.*60
. . . . . . g.186622
aatggggaaggggggtcgatatgcattatatgtgccgtgtgtggaaaaaaaaaaagtcag c.*120
. . . . . . g.186682
gtactctgttttgtaaaagtacttttaaattgcctcagtgatacagtataaagataaaca c.*180
. . . . . . g.186742
gaaatgctgagataagcttagcacttgagttgtacaacagaacacttgtacaaaatagat c.*240
. . . . . . g.186802
tttaaggctaacttcttttcactgttgtgctcctttgcaaaatgtatgttacaatagata c.*300
. . . . . . g.186862
gtgtcatgttgcaggttcaacgttatttacatgtaaatagacaaaaggaaacatttgcca c.*360
. . . . . . g.186922
aaagcggcagatctttactgaaagagagagcagctgttatgcaacatatagaaaaatgta c.*420
. . . . . . g.186982
tagatgcttggacagacccggtaatgggtggccattggtaaatgttaggaacacaccagg c.*480
. . . . . . g.187042
tcacctgacatcccaagaatgctcacaaacctgcaggcatatcattggcgtatggcactc c.*540
. . . . . . g.187102
attaaaaaggatcagagaccattaaaagaggaccatacctattaaaaaaaaatgtggagt c.*600
. . . . . . g.187162
tggagggctaacatatttaattaaataaataaataaatctgggtctgcatctcttattaa c.*660
. . . . . . g.187222
ataaaaatataaaaatatgtacattacattttgcttattttcatataaaaggtaagacag c.*720
. . . . . . g.187282
agtttgcaaagcatttgtggctttttgtagtttacttaagccaaaatgtgtttttttccc c.*780
. . . . . . g.187342
cttgatagcttcgctaatattttaaacagtcctgtaaaaaaccaaaaaggactttttgta c.*840
. . . . . . g.187402
tagaaagcactaccctaagccatgaagaactccatgctttgctaaccaagataactgttt c.*900
. . . . . . g.187462
tctctttgtagaagttttgtttttgaaatgtgtatttctaattatataaaatattaagaa c.*960
. . . . . . g.187522
tcttttaaaaaaatctgtgaaattaacatgcttgtgtatagctttctaatatatataata c.*1020
. . . . . . g.187582
ttatggtaatagcagaagttttgttatcttaatagcgggaggggggtatatttgtgcagt c.*1080
. . . . . . g.187642
tgcacatttgagtaactattttctttctgttttcttttactctgcttacattttataagt c.*1140
. . . . . . g.187702
ttaaggtcagctgtcaaaaggataacctgtggggttagaacatatcacattgcaacaccc c.*1200
. . . . . . g.187762
taaattgtttttaatacattagcaatctattgggtcaactgacatccattgtatatacta c.*1260
. . . . . . g.187822
gtttctttcatgctatttttattttgttttttgcatttttatcaaatgcagggccccttt c.*1320
. . . . . . g.187882
ctgatctcaccatttcaccatgcatcttggaattcagtaagtgcatatcctaacttgccc c.*1380
. . . . . . g.187942
atattctaaatcatctggttggttttcagcctagaatttgatacgctttttagaaatatg c.*1440
. . . . . . g.188002
cccagaatagaaaagctatgttggggcacatgtcctgcaaatatggccctagaaacaagt c.*1500
. . . . . . g.188062
gatatggaatttacttggtgaataagttataaattcccacagaagaaaaatgtgaaagac c.*1560
. . . . . . g.188122
tgggtgctagacaagaaggaagcaggtaaagggatagttgctttgtcatccgtttttaat c.*1620
. . . . . . g.188182
tattttaactgacccttgacaatcttgtcagcaatataggactgttgaacaatcccggtg c.*1680
. . . . . . g.188242
tgtcaggacccccaaatgtcacttctgcataaagcatgtatgtcatctattttttcttca c.*1740
. . . . . . g.188302
ataaagagatttaatagccatttcaagaaatcccataaagaacctctctatgtccctttt c.*1800
. . . . . . g.188362
tttaatttaaaaaaaatgactcttgtctaatattcgtctataagggattaattttcagac c.*1860
. . . . . . g.188422
cctttaataagtgagtgccataagaaagtcaatatatattgtttaaaagatatttcagtc c.*1920
. . . . . . g.188482
taggaaagattttccttctcttggaatgtgaagatctgtcgattcatctccaatcatatg c.*1980
. . . . . . g.188542
cattgacatacacagcaaagaagatataggcagtaatatcaacactgctatatcatgtgt c.*2040
. . . . . . g.188602
aggacatttcttatccattttttctcttttacttgcatagttgctatgtgtttctcattg c.*2100
. . . . . . g.188662
taaaaggctgccgctgggtggcagaagccaagagaccttattaactaggctatatttttc c.*2160
. . . . . . g.188722
ttaacttgatctgaaatccacaattagaccacaatgcacctttggttgtatccataaagg c.*2220
. . . . . . g.188782
atgctagcctgccttgtactaatgttttatatattaaaaaaaaaaaatctatcaaccatt c.*2280
. . . . . . g.188842
tcatatatatcccactactcaaggtatccatggaacatgaaagaataacatttatgcaga c.*2340
. . . . . . g.188902
ggaaaaacaaaaacatccctgaaaatatacacactcatacacacacacgcacaggggaat c.*2400
. . . . . . g.188962
aaaataagaaaatcattttcctcaccatagacttgatcccatccttacaacccatccttc c.*2460
. . . . . . g.189022
taacttgatgtgtataaaatatgcaaacatttcacaaatgttctttgtcatttcaaaata c.*2520
. . . . . . g.189082
ctttagtatatcaatatcagtagataccagtgggtgggaaagggtcattacatgaaaata c.*2580
. . . . . . g.189142
tgaagaaatagccatattagttttttaacctgcaatttgcctcagcaacaaagaaaaagt c.*2640
. . . . . . g.189202
gaatttttaatgctgaagataaagtaagctaaagtaccagcagaagccttggctatttat c.*2700
. . . . . . g.189262
agcagttctgacaatagttttataagaacatgaagagaacagaatcacttgaaaatggat c.*2760
. . . . . . g.189322
gccagtcatctcttgttcccactactgaattcttataaagtggtggcaagatagggaagg c.*2820
. . . . . . g.189382
gataatctgagaatttttaaaagatgatttaatgagaagaagcacaattttgattttgat c.*2880
. . . . . . g.189442
gagtcactttctgtaaacaatcttggtctatctttacccttataccttatctgtaattta c.*2940
. . . . . . g.189502
ccatttattgtatttgcaaagctagtatggtttttaatcacagtaaatcctttgtattcc c.*3000
. . . . . . g.189562
agactttagggcagagccctgagggagtattattttacataacccgtcctagagtaacat c.*3060
. . . . . . g.189622
tttaggcaacattcttcattgcaagtaaaagatccataagtggcattttacacggctgcg c.*3120
. . . . . . g.189682
agtattgttatatctaatcctattttaaaagatttttggtaatatgaagcttgaatactg c.*3180
. . . . . . g.189742
gtaacagtgatgcaatatacgcaagctgcacaacctgtatattgtatgcattgctgcgtg c.*3240
. . . . . . g.189802
gaggctgtttatttcaacctttttaaaaattgtgttttttagtaaaatggcttatttttt c.*3300
. . . . . . g.189862
cccaaaggtggaatttagcattttgtaatgatgaatataaaaatacctgtcatccccaga c.*3360
. . . . . . g.189922
tcatttaaaagttaactaaagtgagaatgaaaaaacaaaattccaagacactttttaaaa c.*3420
. . . . . . g.189982
gaatgtctgccctcacacacttttatggatttgtttttcttacatacccatcttttaact c.*3480
. . . . . . g.190042
tagagatagcattttttgccctctttattttgttgtttgtttctccagagagtaaacgct c.*3540
. . . . . . g.190102
ttgtagttctttctttaaaaaacattttttttaaagaagaagaagccacttgaaccctca c.*3600
. . . . . . g.190162
ataaaggctgttgcctaagcatggcatacttcatctgttctcatttgtgccatctgccgt c.*3660
. . . . . . g.190222
gatgtcgtcacttttatggcgttaatttcctgccactacagatcttttgaagattgctgg c.*3720
. . . . . . g.190282
aatactggtgtctgttagaatgcttcagactacagatgtaattaaaggcttttcttaata c.*3780
. . . . . . g.190342
tgttttaaccaaagatgtggagcaatccaagccacatatcttctacatcaaatttttcca c.*3840
. . . . . . g.190402
ttttggttattttcataatctggtattgcattttgccttccctgttcatacctcaaattg c.*3900
. . . . . . g.190462
attcatacctcagtttaattcagagaggtcagttaagtgacggattctgttgtggtttga c.*3960
. . . . . . g.190522
atgcagtaccagtgttctcttcgagcaaagtagacctgggtcactgtaggcataggactt c.*4020
. . . . . . g.190582
ggattgcttcagatggtttgctgtatcatttttcttctttttcttttcctggggacttgt c.*4080
. . . . . . g.190642
ttccattaaatgagagtaattaaaatcgcttgtaaatgagggcatacaagcatttgcaac c.*4140
. . . . . . g.190702
aaatattcaaatagaggctcacagcggcataagctggactttgtcgccactagatgacaa c.*4200
. . . . . . g.190762
gatgttataactaagttaaaccacatctgtgtatctcaagggacttaattcagctgtctg c.*4260
. . . . . . g.190822
tagtgaataaaagtgggaaattttcaaaagtttctcctgctggaaataaggtataatttg c.*4320
. . . . g.190865
tattttgcagacaattcagtaaagttactggctttcttagtga c.*4363
(downstream sequence)
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