(used for variant description)
(last modified February 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_016356.3 in the DCDC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012829.1, covering DCDC2 transcript NM_016356.3.
(upstream sequence)
g.30242
gt c.-301
. . . . . . g.30302
ccaccttgattctgcccgtagcaggtgaacctggtgtggtgcgcgcactgcgggtcctga c.-241
. . . . . . g.30362
ttggctgtgcacgccacggtgaaaaacttgagcgtctactccgagtcctgcaagctccta c.-181
. . . . . . g.30422
gtgtctcctctgggtggacgcctaggcgcacggccgttacttctctttcacctgtggatt c.-121
. . . . . . g.30482
cgtcagtttctcgttcgtttcaggaggcgatcccgcgccctgggtgcggtgaggccgctg c.-61
. . . . . . g.30542
ggacagcggaggtgcctcccgacgcgaagcagcgagctgaggcggcggccagcggggaag c.-1
. . . . . . g.30602
ATGAGCGGCAGCAGCGCCAGGTCCAGCCACCTGTCTCAGCCCGTCGTGAAGAGCGTGCTT c.60
M S G S S A R S S H L S Q P V V K S V L p.20
. . . . . . g.30662
GTGTACCGCAACGGGGACCCCTTCTACGCGGGGCGCCGCGTCGTCATCCATGAGAAGAAG c.120
V Y R N G D P F Y A G R R V V I H E K K p.40
. . . . . . g.30722
GTGTCCAGCTTCGAAGTCTTCCTGAAGGAGGTGACCGGCGGCGTTCAGGCACCCTTTGGG c.180
V S S F E V F L K E V T G G V Q A P F G p.60
. . . . . . g.30782
GCCGTCAGGAACATCTACACCCCGCGGACTGGCCACCGAATCCGGAAGCTAGACCAGATC c.240
A V R N I Y T P R T G H R I R K L D Q I p.80
. . . . . | 02 . g.34676
CAGAGCGGGGGCAATTACGTGGCTGGAGGCCAGGAAGCCTTCAAGAAACTCAA | TTACTTG c.300
Q S G G N Y V A G G Q E A F K K L N | Y L p.100
. . . . | 03 . g.86260
GACATAGGAGAAATCAAGAAAAGACCAATGGAAGTTGTTAATACAGAG | GTAAAACCAGTA c.360
D I G E I K K R P M E V V N T E | V K P V p.120
. . . . . . g.86320
ATCCATAGCAGGATCAACGTGTCAGCTCGCTTTAGAAAACCGCTTCAGGAGCCGTGCACT c.420
I H S R I N V S A R F R K P L Q E P C T p.140
| 04 . . . . . . g.86501
ATCTT | CTTGATTGCAAATGGAGACCTCATAAACCCAGCTTCTCGCCTCCTTATCCCCAGA c.480
I F | L I A N G D L I N P A S R L L I P R p.160
. . . . . . g.86561
AAAACCTTGAATCAGTGGGATCATGTACTACAAATGGTCACAGAAAAAATCACTCTGAGG c.540
K T L N Q W D H V L Q M V T E K I T L R p.180
. | 05. . . . . g.97257
AGCGGGGCTGTTCACAG | GCTTTATACTTTAGAAGGAAAACTTGTTGAGAGTGGAGCAGAG c.600
S G A V H R | L Y T L E G K L V E S G A E p.200
. . . . . . g.97317
TTGGAGAATGGGCAGTTTTATGTGGCTGTTGGCAGAGATAAGTTTAAGAAACTGCCTTAC c.660
L E N G Q F Y V A V G R D K F K K L P Y p.220
. . . . | 06 . . g.99402
AGTGAGTTACTTTTTGACAAGTCAACGATGAGAAGGCCTTTTGG | TCAGAAAGCTTCTTCA c.720
S E L L F D K S T M R R P F G | Q K A S S p.240
. . . | 07 . . g.110102
CTACCTCCTATTGTAGGATCCAGAAAGTCTAAAGGGAGT | GGAAATGATCGCCACTCTAAG c.780
L P P I V G S R K S K G S | G N D R H S K p.260
. . . . . . g.110162
TCAACAGTTGGATCCAGTGACAACTCATCTCCTCAGCCCCTGAAGAGGAAAGGGAAAAAA c.840
S T V G S S D N S S P Q P L K R K G K K p.280
. . . . . . g.110222
GAAGACGTGAATTCAGAAAAACTGACGAAATTGAAACAAAATGTAAAATTAAAGAATTCA c.900
E D V N S E K L T K L K Q N V K L K N S p.300
. . | 08 . . . . g.183228
CAAGAAACCATTCCAAATAGTG | ATGAAGGCATTTTCAAAGCTGGAGCAGAGAGGTCTGAA c.960
Q E T I P N S D | E G I F K A G A E R S E p.320
. . . . . . g.183288
ACACGGGGGGCAGCAGAAGTCCAAGAAGATGAAGATACTCAGGTTGAGGTTCCAGTCGAT c.1020
T R G A A E V Q E D E D T Q V E V P V D p.340
| 09 . . . . . . g.209717
CAG | AGGCCAGCAGAAATAGTAGACGAGGAAGAAGATGGAGAGAAGGCAAACAAGGATGCA c.1080
Q | R P A E I V D E E E D G E K A N K D A p.360
. . . . . . g.209777
GAACAGAAAGAAGACTTTTCAGGAATGAATGGTGACCTTGAAGAGGAAGGAGGTAGGGAG c.1140
E Q K E D F S G M N G D L E E E G G R E p.380
. . . . . . g.209837
GCTACAGATGCCCCTGAGCAAGTCGAGGAGATTCTGGATCACAGTGAGCAGCAGGCACGC c.1200
A T D A P E Q V E E I L D H S E Q Q A R p.400
. . . . . . g.209897
CCTGCTCGTGTAAATGGAGGCACCGATGAGGAGAATGGTGAGGAGCTGCAGCAGGTTAAT c.1260
P A R V N G G T D E E N G E E L Q Q V N p.420
. . . . . . g.209957
AATGAGCTTCAACTGGTCCTAGACAAGGAAAGAAAGTCTCAAGGAGCTGGCAGTGGACAA c.1320
N E L Q L V L D K E R K S Q G A G S G Q p.440
| 10 . . . . . . g.213512
GATGAG | GCTGATGTAGACCCTCAAAGACCACCAAGGCCAGAAGTAAAAATTACCAGTCCA c.1380
D E | A D V D P Q R P P R P E V K I T S P p.460
. . . . . g.213563
GAAGAAAATGAAAACAACCAACAAAACAAGGACTATGCTGCCGTGGCTTAG c.1431
E E N E N N Q Q N K D Y A A V A X p.476
. . . . . . g.213623
aacatttttaaaaagagagtatatggatcgcaagaaaaatgaagggttatcatacttgaa c.*60
. . . . . . g.213683
agataagcacatagttattgctgaatataatgtgacactatggtcgaatactacctacga c.*120
. . . . . . g.213743
attataacattagaagcctagtggaaagaccagataactttaaatggctactaaaggata c.*180
. . . . . . g.213803
attacttacttttattgcatgtgttttaaaagtcatatagaaatattaaataagacggac c.*240
. . . . . . g.213863
agaggagaatttgcactggaagacaattgccacttgtaaaggatgaaaaataggatcact c.*300
. . . . . . g.213923
cttattgtacgctttattataagtttagaaggcagtttattctaaataatttttctctag c.*360
. . . . . . g.213983
gaaggcgtagaattttaaagaactggtaataggaaagcatgtactattttcttaaagcaa c.*420
. . . . . . g.214043
taaactcttgaatgaacagattgcgatttactttcagacataatttggagatggcagtag c.*480
. . . . . . g.214103
atcaaaatgtgtccatgacttgttaacatgcctttctttcttcctccttagccaaaatcc c.*540
. . . . . . g.214163
acctttgaactacaaagacagagcaaggcgttcattttggtgggaggaagcattggttca c.*600
. . . . . . g.214223
gagtgttagtgactagtatcgccatgccgtcacttaaatgctttcaggcttgcatgcttg c.*660
. . . . . . g.214283
tggctccaatggcgcacactcaggaaggaattgtaaaggagcacccagttatattataaa c.*720
. . . . . . g.214343
gcctggatgtatggtttgcagataatggaaatcctgtggattttcactgatccagtctat c.*780
. . . . . . g.214403
ctttaccaatagtatctctctcttctcccttatgttattagagaacctgatattggctat c.*840
. . . . . . g.214463
tccaaagattaaattattttcaaatagttttcaacaaaaataaaagtgtattaggaagaa c.*900
. . . . . . g.214523
aaaagtagactatatgaagagtttgtgactgctcaatttaacttgttttttgccttattt c.*960
. . . . . . g.214583
ctattaagactgttttactatgtttttgccctagggatatcagcaaatatttatttttcc c.*1020
. . . . . . g.214643
tagcatgatatagttagaatttcaagcagatttctttgtaattagaaggcatctgataga c.*1080
. . . . . . g.214703
aattgtaaaactttagaagttattataatgaaaccaattcctgaatcacaacttcatgga c.*1140
. . . . . . g.214763
ctgactaaattgatttatagttgccttgtgaggtatgtatggggaaaacataaaaacata c.*1200
. . . . . . g.214823
attaaaacataatttcgtcctttttatgaattcttaagagatgttcttccataaatatag c.*1260
. . . . . . g.214883
aaataatatatttttcttaaaggatatatttttaattatgtggaagttgtaagcttgaaa c.*1320
. . . . . . g.214943
ttttaacttctagtgcttttctaaaattcacaattacaagtttaaaacattttttctctt c.*1380
. . . . . . g.215003
ccaggtttcatttggaataaagagttggcagttatataaagcacttaataatactataga c.*1440
. . . . . . g.215063
aaatagatgtgttttttcttaatatgattttggtattttccacagatcagaagtgtaaac c.*1500
. . . . . . g.215123
agagagataatgtaacagtatttggaagagataatgacacaaggatatagtgatctggga c.*1560
. . . . . . g.215183
gcatgaattagaaacagggtactatgtttctggtgtaaaatctaaattgtgctttctact c.*1620
. . . . . . g.215243
agcgttactttttcaaatgggatgatataaagcactgtgggctataagcaacaatcttgg c.*1680
. . . . . . g.215303
gttggtaggcaaatagaccaattgatctttattattattattattattattattattatt c.*1740
. . . . . . g.215363
ttttgagatgaagtcttgctcttgtcgcccaggctgggtgcagtggcatgatcttggctt c.*1800
. . . . . . g.215423
actgcaacctctgcctcctgggttcaagcacctgagcctcccgagtagctgggattacag c.*1860
. . . . . . g.215483
gcatctgccaccacacctggctaatttttgtattttttgtagagacagatgtttcaccat c.*1920
. . . . . . g.215543
gttggccaggctggtctcaaactcctgacctcaggtgatccgcccgcctttgcatcccaa c.*1980
. . . . . . g.215603
aatgctgggattacaggtgtgagccacagcacccggtcccagttggtcttttaatattaa c.*2040
. . . . . . g.215663
atttgtgcactattactgggtctggagttaatgatttcaaatagtttctaaaaataactg c.*2100
. . . . . . g.215723
attaaatgtaagaaattataactaattatcaaggtgattctcttttgtttcttcaatgga c.*2160
. . . . . . g.215783
gagtttctctttctcttttcctcctctaataaaaatatttctttttttcctgtcctttta c.*2220
. . . . . . g.215843
ttcattatattatgaaacttaggttttaggaaacaccttaagcgtcattttaatgaagca c.*2280
. . . . . . g.215903
caacattgatattttacatgaataataacgtttggtattttaaatatacttcaagggggt c.*2340
. . . . . . g.215963
aataagccacaataactgtaccaaaaaaacttaaaaatggggacatattcatcccttgtg c.*2400
. . . . . . g.216023
tgtgcatattttaccacttgttgacaagatacaattgtgacctactttgaggggatgaat c.*2460
. . . . . . g.216083
aacgacttatcactttaagacactttgcaaacatgttactaaaaaaaggtgcctagccaa c.*2520
. . . . . . g.216143
ggaaaaaaccattcacttggaattaaaattgtggatgtcacttcagagatgactttaaca c.*2580
. . . . . . g.216203
taaatgctgaaagttcattcacctcacaaatgtggcagttttctctgtggagaatggtgg c.*2640
. . . . . . g.216263
tctccgtggcagactggctctccaaattaaatgaaactcattgacagacctgggaccttt c.*2700
. . . . . . g.216323
tatgtgagtggacagacaagatcttggtttggcttcatgtactgttttctagagagagtg c.*2760
. . . . . . g.216383
ctacgaaaaacttatgatgcttttatgtgataaccaatataatgctttaatatgttaatt c.*2820
. . . . . . g.216443
ctttgtgatgctatatacatagtttttatagttttatgaaaccactttgttaaacttatc c.*2880
. . . . . . g.216503
tggattttaagacacttgtaaacaaatggtttgttagtaaaattggggcattaagagttt c.*2940
. . . g.216538
tacagagcaaataaagaagattttgacaaaagtca c.*2975
(downstream sequence)
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