(used for variant description)
(last modified August 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_177402.4 in the SYT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_041776.1, covering SYT2 transcript NM_177402.4.
(upstream sequence)
g.5003
aaa c.-181
. . . . . . g.5063
ggcacttcggagccgagttggggcagcggtggagcggggacttcgcgcccccaggggaac c.-121
. . . . . . g.5123
gggcgcccctgcgaaaccgtcgccagccacgcgtccttgccgtccgacgccccctcacat c.-61
. . . . . | 02 . g.109651
tggagaccccggatctctcccgcctccttcgggtcgctctccg | ctgtttcctctgccacc c.-1
. . . . . . g.109711
ATGAGGAACATTTTCAAGAGGAACCAGGAGCCTATTGTGGCTCCTGCCACCACCACCGCC c.60
M R N I F K R N Q E P I V A P A T T T A p.20
. . . . . . g.109771
ACGATGCCCATTGGACCCGTGGACAACTCCACTGAGAGTGGGGGTGCTGGGGAGAGCCAG c.120
T M P I G P V D N S T E S G G A G E S Q p.40
. . . . . | 03 g.110804
GAGGACATGTTTGCCAAACTGAAGGAGAAGTTATTCAATGAGATAAACAAGATTCCCT | TA c.180
E D M F A K L K E K L F N E I N K I P L | p.60
. . . . . . g.110864
CCACCCTGGGCACTGATCGCCATTGCTGTGGTTGCTGGGCTCCTGCTTCTCACCTGCTGC c.240
P P W A L I A I A V V A G L L L L T C C p.80
. . . . . . g.110924
TTCTGCATCTGCAAGAAATGCTGCTGCAAGAAGAAGAAGAACAAGAAGGAGAAGGGCAAA c.300
F C I C K K C C C K K K K N K K E K G K p.100
. . . . | 04 . . g.112320
GGCATGAAGAATGCCATGAACATGAAGGACATGAAAGGGGGTCAG | GATGACGACGACGCA c.360
G M K N A M N M K D M K G G Q | D D D D A p.120
. . . . . . g.112380
GAGACAGGCCTGACTGAGGGGGAAGGTGAAGGGGAGGAGGAGAAAGAGCCAGAGAACCTG c.420
E T G L T E G E G E G E E E K E P E N L p.140
. . . . | 05 . . g.112893
GGCAAACTGCAGTTTTCCCTGGACTATGATTTTCAGGCTAATCAG | CTTACTGTGGGCGTT c.480
G K L Q F S L D Y D F Q A N Q | L T V G V p.160
. . . . . . g.112953
CTGCAGGCTGCTGAACTGCCTGCCCTGGACATGGGAGGCACCTCAGACCCTTATGTCAAG c.540
L Q A A E L P A L D M G G T S D P Y V K p.180
. . . . . . g.113013
GTCTTCCTCCTTCCTGACAAGAAGAAGAAATATGAGACCAAAGTCCATCGGAAGACACTG c.600
V F L L P D K K K K Y E T K V H R K T L p.200
. . . | 06 . . . g.113393
AACCCTGCCTTCAATGAAACCTTCACCTTCAAG | GTGCCATACCAGGAGCTTGGGGGCAAA c.660
N P A F N E T F T F K | V P Y Q E L G G K p.220
. . . . . . g.113453
ACTCTGGTGATGGCCATCTATGACTTTGACCGCTTCTCCAAACATGACATCATTGGAGAG c.720
T L V M A I Y D F D R F S K H D I I G E p.240
. . . . . . g.113513
GTAAAGGTGCCTATGAACACAGTGGACCTCGGCCAGCCCATTGAGGAGTGGAGAGACCTG c.780
V K V P M N T V D L G Q P I E E W R D L p.260
. . | 07 . . . . g.114988
CAAGGCGGGGAAAAGGAGGAG | CCGGAGAAGCTGGGCGACATCTGCACCTCCCTGCGCTAT c.840
Q G G E K E E | P E K L G D I C T S L R Y p.280
. . . . . . g.115048
GTGCCCACGGCCGGGAAGCTCACTGTCTGCATCCTGGAGGCTAAGAACCTCAAGAAGATG c.900
V P T A G K L T V C I L E A K N L K K M p.300
. | 08 . . . . g.116113
GACGTGGGCGGCCTTTCAG | ACCCGTACGTGAAGATCCACCTGATGCAGAATGGCAAGAGG c.960
D V G G L S D | P Y V K I H L M Q N G K R p.320
. . . . . . g.116173
CTCAAGAAGAAGAAGACAACCGTGAAGAAGAAGACCCTGAACCCATACTTCAACGAGTCC c.1020
L K K K K T T V K K K T L N P Y F N E S p.340
. . . | 09 . . . g.118487
TTCAGCTTTGAGATCCCCTTCGAGCAGATTCAG | AAAGTCCAGGTAGTGGTCACCGTGCTG c.1080
F S F E I P F E Q I Q | K V Q V V V T V L p.360
. . . . . . g.118547
GACTATGACAAGCTGGGCAAGAACGAAGCCATAGGCAAGATCTTCGTGGGCAGCAATGCC c.1140
D Y D K L G K N E A I G K I F V G S N A p.380
. . . . . . g.118607
ACGGGCACAGAGCTGCGGCACTGGTCCGACATGCTGGCCAACCCCCGGAGGCCCATCGCC c.1200
T G T E L R H W S D M L A N P R R P I A p.400
. . . . . . g.118667
CAGTGGCACTCGCTCAAGCCTGAGGAGGAGGTGGATGCACTCCTGGGCAAGAACAAGTAG c.1260
Q W H S L K P E E E V D A L L G K N K X p.419
. . . . . . g.118727
acagcagcggctgggaccccacacctttcacggacactgacaagatccagagctatcaat c.*60
. . . . . . g.118787
acctcagttatgcaaccttagaggttttcttttttctttcatttgttgggtggttgtgtc c.*120
. . . . . . g.118847
cttgtttttccttgtttttctctttttaaagaccaacttccctttgatggctgtgtgagg c.*180
. . . . . . g.118907
agagtcccctaagaggtgaaagagaagcctggctctgttcacggtcccaggagctgtcct c.*240
. . . . . . g.118967
tgctgcatgccctgtcacagttccctcgactctttcaaagcttcacatctgcctcacccc c.*300
. . . . . . g.119027
aagcgaggctctctactggcacaaacttgcagcagttcctgttttttgagccttctggac c.*360
. . . . . . g.119087
caacaaaatggcagcacatcctgcttcctgacagggaaggcatcacagtggccaatgatc c.*420
. . . . . . g.119147
gtgtgtgtgtgtgtgtgtgtgtgtgtgtatgtgtgtgtgtgtgtgtgtgtgtgtgtgtgt c.*480
. . . . . . g.119207
gtgtgtgtctttgagcatttctcttcattcctggaatgtgtgtgtgtgtgtgtctctttg c.*540
. . . . . . g.119267
agcatctctcttcattcctggaatgagccatggacagtaaagttgtgtgggaaaagaagg c.*600
. . . . . . g.119327
ctctttggggaccctgacatgaagaagtccactaagtgggagatcttctctcatctatgg c.*660
. . . . . . g.119387
caaagtctcaggatcctgttcagatatcggggctttcatactcctgttggtggctatttg c.*720
. . . . . . g.119447
ggaggcagcaagatgtgaagactggatgtgttcagaactaggaccaaacgatgccatcaa c.*780
. . . . . . g.119507
atacttcctcctgccagtcatggtttccccagaagtgtagttcctgggacattcatggat c.*840
. . . . . . g.119567
atgagctattcactagttgggtcagactaacagggactctcagtcccaaaatctcactct c.*900
. . . . . . g.119627
tattgacaataaatatcaaactatgaagaaacagaagtcccattaccagaaagaccaaaa c.*960
. . . . . . g.119687
ttaaactcctggatcttcaccccatccagtgggaaacacagatgctttctccctttccag c.*1020
. . . . . . g.119747
aatataagcagccaagttcatttgcatttattccccattgtgcttttgcttctgtttctc c.*1080
. . . . . . g.119807
ttttaagtggagcaacactgtctgaagacacgttatctgtgcagagccagagaactttaa c.*1140
. . . . . . g.119867
aaggaaagtttaaatgttcttagttctcctgaggtccaggtaagaagggggtggtaagaa c.*1200
. . . . . . g.119927
gaggatgggggacagatggctgagatcccttgggaggagatataggggagcactggaatt c.*1260
. . . . . . g.119987
cccccgactcccactccttgctcccttggccctctgccctccatgctggagagctgatag c.*1320
. . . . . . g.120047
gtagctggagtggcccagggagacctatgggaaggacccgtcctaccattagggggcttc c.*1380
. . . . . . g.120107
tctctatgaatgctaagaaacaaagggcatccattccaaatgagtagcagaggtgacctt c.*1440
. . . . . . g.120167
ctagggtttctacccatgctcagttgtatcccattccctgttcaccttttgtccccagca c.*1500
. . . . . . g.120227
ctgatataaaagccatatatatgttagtcaggtttgcactgagtcttcttccaatccttc c.*1560
. . . . . . g.120287
agcctggacaacagagtgaggtccccttgtggccagaggccagccctccttgcctgcctt c.*1620
. . . . . . g.120347
cctttgacctctcttttccatccatgaagccctcaggcccttgccattttttcaccacag c.*1680
. . . . . . g.120407
aaaactcatggcttctccagaagcctgagtatctctctttcccagcacaaatggcagcat c.*1740
. . . . . . g.120467
ctctatcctgccccatctgggccacttcagcttcctgtagacacccaagacagatggaca c.*1800
. . . . . . g.120527
gtgttggagggaatcaggctttgaggatccagtgtgaagaagttgcagagtgtcttttta c.*1860
. . . . . . g.120587
ttttattttaaaaagggggaaggggcttttggttttgctttgttttttggatgaaggagt c.*1920
. . . . . . g.120647
gagggaaatgagggaatacccccaccagaaacagactggaaagcctgcctgtctcttgga c.*1980
. . . . . . g.120707
gatccttctttgtcttgttagtggtacatgggaagttatgtttttactggtgtgtgtgtg c.*2040
. . . . . . g.120767
tgtgtgtgtgtgtgtacttaatgatgggaaggtaagactctgatcaggattatgaactgc c.*2100
. . . . . . g.120827
ggtccttgggaccaaaggtgtggtcatggtagagagttgtaggacaatagggtgttttca c.*2160
. . . . . . g.120887
gaatctgggtggccacagagtgggatttcctggtatggacatcagaagtcactggactct c.*2220
. . . . . . g.120947
tctcccaaccccagagttatgggattttggtgctttctcagggtctctccccagactcac c.*2280
. . . . . . g.121007
tcttctcacccatatcccacagactcactcatggagacccccttgtcaatatcccctcta c.*2340
. . . . . . g.121067
cctttactcctttgccctttcccaattcatcttctaccacctggattcttttccattcat c.*2400
. . . . . . g.121127
gaacttcattcagcccttccaaagcccaagatttgcattcccttgacagggaggaaaggc c.*2460
. . . . . . g.121187
aatggtaggaacctctggtggtctgggtgtctatgtgcctggtgaccagggctggatttt c.*2520
. . . . . . g.121247
tattactctgagcccactgctagtgaggagccttgaggggtggggacaggttgctgagtg c.*2580
. . . . . . g.121307
attttgaacgttgacaccagtgtggagccagtgtgggtgtggggagcagtgccttcctca c.*2640
. . . . . . g.121367
ggtcccagctggtcctgatatgccacgtagtggatggcatctgtcttggtccatgggctt c.*2700
. . . . . . g.121427
ggtgggaacatgcttctgcttgtgtgttttccatacctgagggctgacgtagcttaaacc c.*2760
. . . . . . g.121487
acagggcatcatgccaaacactcactgctgggcaggtttatttctggggatgtcagggta c.*2820
. . . . . . g.121547
ctggggtgtaggcactaagcaggatagagttagggtgtctggctagtaaggggttctgga c.*2880
. . . . . . g.121607
cgcctctggggctgtgagttttcatctcaaagtctgttccagagaaaggaaagtagtata c.*2940
. . . . . . g.121667
gaggtgatttttagagaagctgagaccatgaaaacaagcctaatcccatccagaaactgg c.*3000
. . . . . . g.121727
ggtaaagtctgaaagttcgttttcttcttcctccctgaataattgttccagaagggatgc c.*3060
. . . . . . g.121787
taactctgccagagctacaggcagatttttgggctttggaagtggaagctgaggcctggg c.*3120
. . . . . . g.121847
gaaggctgggtaaggaatgctggggcaatctcagacagtaggcaggtgcttggcatgaat c.*3180
. . . . . . g.121907
gagaagtgactttcctggagtccctcagtagaggatgagatagcagggattaggccacag c.*3240
. . . . . . g.121967
tctcagatcctgatcttttttcttcctaggaaagcatacataacttgtgtctgcagaatc c.*3300
. . . . . . g.122027
agtgtgggatgattttgctggcccaaggcttcagcgagagggagaagagaggtcactaca c.*3360
. . . . . . g.122087
gccctcctgtgggtaaaagcagctctcttataaacctgcctccatgcagtggggtggggg c.*3420
. . . . . . g.122147
taagggtgggtgacagcaaagaggttgaggaacctccctgggtttggggagtgagagctt c.*3480
. . . . . . g.122207
ccatgttcccttaatgtcctaggttaattcataaggcatctgagtcctgggtctcaccca c.*3540
. . . . . . g.122267
gcctcacagagagaaaaactgtccctgagggtgtcccctcccactcaaaggtagaaagag c.*3600
. . . . . . g.122327
attgagccaggaactgccctcatatcctctgctctgccccttcccttccctttcctctgc c.*3660
. . . . . . g.122387
ccctcccacctaaagctgtttggggccctttctcagagccctgggtggtggcaggcaggg c.*3720
. . . . . . g.122447
aggagtcccaagatcctggtggccctgagccccatgctatggttgccagatttggcaaat c.*3780
. . . . . . g.122507
aaaaatacaggatgtccagttacatttgaatttcagttcaacaacaaacaattattaagt c.*3840
. . . . . . g.122567
gtaaatatgtcctaggcaaatagttgggacatatactaaaaaataatttgttgtttatct c.*3900
. . . . . . g.122627
gaaattcaaatgtaactggtcatcctgcattgtgtctgggaaccctaccctatgactttt c.*3960
. . . . . . g.122687
ccccctctccctttggtcccaaggggccaggaaccccaaggatttgacttaaccagtttt c.*4020
. . . . . . g.122747
ttgaactgcaatattgagaaggggacactgtgacttgaagacacatgaattactttattt c.*4080
. . . . . . g.122807
tttaagcaacaacaaaataagaaccttctgaagccatttgagcctcatctgcccccatcc c.*4140
. . . . . . g.122867
gtgtatatttaattatatataaaagaagataattacctagaaacatatgaacagaatctt c.*4200
. . . . . . g.122927
gtttaatcaagatgcatgtctataactttctgtaaatagccgcatggcaatgctgagagt c.*4260
. . . . . . g.122987
ccccttgatccccaacctcaaacccattttacagaactggttgaggctgctcctttgatt c.*4320
. . . . . . g.123047
ttatgtcgtgtaaagtctttgttccccagccccacccctgcctcctcccatcgggaaacc c.*4380
. . . . . . g.123107
ccccatgggagtcatcagtgggcgggagtcggtgcctgctccagtccagccctgccttgg c.*4440
. . . . . . g.123167
gagatgctggaggaccctgtcgccctgaaggcctgtttgctgcacatctgcctgcagagc c.*4500
. . . . . . g.123227
caaacctcagggcccggtgcagtgtccagcctggtatctggcatcccagtagcttccatg c.*4560
. . . . . . g.123287
ttctgtgtatgtgtgtggtgtgccccttcctcccactgtttgaattcactgaaaagccat c.*4620
. . . . . . g.123347
aaagggggcctcctgctggagatttggcctcccttggctcctcccaggagcccccatgtc c.*4680
. . . . . . g.123407
tctccaactggctccccacagaccacttctgaagggctcacctgttgtcactccctcctg c.*4740
. . . . . . g.123467
ctccctcagtcccgtgtcatgagaatggacggtgtccagggcttccggtggggtctcagg c.*4800
. . . . . . g.123527
agatgcccatgctggccctgcccgagctggctttctcggcctgggttcacagttcagctc c.*4860
. . . . . . g.123587
catctctacgctgggcgaggagcagacagcagtgggactccatggttctggatacctttc c.*4920
. . . . . . g.123647
ctggggtccctgtggaggcaaccaggattttcaggagcagccagtcagcagctcagccag c.*4980
. . . . . . g.123707
ggatgacagaaccatccctgcttactcacctctgtagtgtgagggtctgtgggtggtgat c.*5040
. . . . . . g.123767
ggaggagggactcagggagaggccggtgaatacaggggctgacgctcttccctcgtgcat c.*5100
. . . . . . g.123827
cctcctgcagtctgacagaaagcagcccaatagcggggcaacctcagggctaccagcgat c.*5160
. . . . . . g.123887
cccctgagagtggggtgggcaggttcagctgtgagagaggctcaggcagagcaggtgtgg c.*5220
. . . . . . g.123947
actaagtcccctgaccttcacacctgctccccagagaagccccagccagttgcaccaagt c.*5280
. . . . . . g.124007
agcagaggtgagtagaggggcctgggggcttccaaggccccaggtcatcctgttgaactg c.*5340
. . . . . . g.124067
agagggacaggtagcccccctgcctgcggcccctggccccatgggcacctgagggcagta c.*5400
. . . . . . g.124127
ctgcatgggaagagcccaggatgcctcaggcctggcaactgtgacaagtatgaggaagga c.*5460
. . . . . . g.124187
gagagaacgggaagggaatcaggcagggcgcattcgaggaggccagaggtggcgaggcag c.*5520
. . . . . . g.124247
gcttgccctgcacaaaccacaacagaagttgcacacagaagtcccagggacctttgtgct c.*5580
. . . . . . g.124307
gggaactgaaagagtggggaaggtggaggggaccatttcagagcaggctggaatcaggtg c.*5640
. . . . . . g.124367
cttggaccagtgaagacatgtcttgcttcctccagctctctctggggccctcccactctc c.*5700
. . . . . . g.124427
cacacccacagcagagacaaattgaggcaagagttgagagagcatctgtctggtgaggtg c.*5760
. . . . . . g.124487
atgggagcagtgtgcatggggcaccaggagttcctccatcccacctgccttagcgatcag c.*5820
. . . . . . g.124547
gactttaggggggcctcttcaaagatagtgacccttctgccctgactcctgcccatctaa c.*5880
. . . . . . g.124607
ggacttgatttgctgctttctgaaaaccctggggctgaaaacttcaaaatcagggcctgg c.*5940
. . . . . . g.124667
cagagcctagcttcgccaaggtcagcccaccaggagccctgccttcgtctccataggaag c.*6000
. . . . . . g.124727
gacacatgtacagcccttgcccccggccctctcattcccacttctgcttggcaatgctct c.*6060
. . . . . . g.124787
ccatctcccttatgtggactcttgttcttgtctgatctcttgtcaaattgttattttgta c.*6120
. . . . g.124828
atgaactgcgtctccttattaaagaaatgagctgaaagaaa c.*6161
(downstream sequence)
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