(used for variant description)
(last modified March 28, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015250.3 in the BICD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering BICD2 transcript NM_015250.3.
(upstream sequence)
. . . . . g.5057
tgaggagggcccggcctgcgagagcctcagtgggagccggctcagccctcggccacc c.-1
. . . . . . g.5117
ATGTCGGCGCCGTCGGAGGAGGAGGAGTACGCGCGGCTGGTGATGGAGGCGCAGCCGGAG c.60
M S A P S E E E E Y A R L V M E A Q P E p.20
. . . . . . g.5177
TGGCTGCGCGCCGAGGTGAAGCGGCTGTCCCACGAGCTGGCCGAGACCACGCGTGAGAAG c.120
W L R A E V K R L S H E L A E T T R E K p.40
. . . . . . g.5237
ATCCAGGCGGCCGAGTACGGGCTGGCGGTGCTCGAGGAGAAGCACCAGCTCAAGCTGCAG c.180
I Q A A E Y G L A V L E E K H Q L K L Q p.60
. . . . . . g.5297
TTCGAGGAGCTCGAGGTGGACTATGAGGCTATCCGCAGCGAGATGGAGCAGCTCAAGGAG c.240
F E E L E V D Y E A I R S E M E Q L K E p.80
| 02 . . . . . . g.40625
| GCCTTTGGACAAGCACACACAAACCACAAGAAGGTGGCTGCTGACGGAGAGAGCCGGGAG c.300
| A F G Q A H T N H K K V A A D G E S R E p.100
. . . . . . g.40685
GAGAGCCTGATCCAGGAGTCGGCCTCCAAGGAGCAGTACTACGTGCGGAAGGTGCTAGAG c.360
E S L I Q E S A S K E Q Y Y V R K V L E p.120
. . . . . . g.40745
CTGCAGACGGAGCTGAAGCAGTTGCGCAATGTCCTCACCAACACGCAGTCGGAGAATGAG c.420
L Q T E L K Q L R N V L T N T Q S E N E p.140
. . . | 03 . . . g.47020
CGCCTGGCCTCTGTGGCCCAGGAGCTGAAGGAG | ATCAACCAGAATGTGGAGATCCAGCGT c.480
R L A S V A Q E L K E | I N Q N V E I Q R p.160
. . . . . . g.47080
GGCCGCCTGCGGGATGACATCAAGGAGTACAAATTCCGGGAAGCTCGTCTGCTGCAGGAC c.540
G R L R D D I K E Y K F R E A R L L Q D p.180
. . . . . . g.47140
TACTCGGAACTGGAGGAGGAGAACATCAGCCTGCAGAAGCAAGTGTCTGTGCTCAGACAG c.600
Y S E L E E E N I S L Q K Q V S V L R Q p.200
| 04 . . . . . . g.49100
AACCAG | GTGGAGTTTGAGGGCCTCAAGCATGAGATCAAGCGTCTGGAGGAGGAGACCGAG c.660
N Q | V E F E G L K H E I K R L E E E T E p.220
. . . . . . g.49160
TACCTCAACAGCCAGCTGGAGGATGCCATCCGCCTCAAGGAGATCTCAGAGCGGCAGCTG c.720
Y L N S Q L E D A I R L K E I S E R Q L p.240
. . . . . . g.49220
GAGGAGGCGCTGGAGACCCTGAAGACGGAGCGCGAACAGAAGAACAGCCTGCGCAAGGAG c.780
E E A L E T L K T E R E Q K N S L R K E p.260
. . . . . . g.49280
CTGTCACACTACATGAGCATCAATGACTCCTTCTACACCAGCCACCTGCATGTCTCGCTG c.840
L S H Y M S I N D S F Y T S H L H V S L p.280
. . . . . . g.49340
GATGGCCTCAAGTTCAGTGACGATGCTGCCGAGCCCAACAACGATGCCGAGGCCCTGGTC c.900
D G L K F S D D A A E P N N D A E A L V p.300
. . . . . . g.49400
AATGGCTTTGAGCACGGCGGCCTGGCCAAGCTGCCACTGGACAACAAGACCTCCACGCCC c.960
N G F E H G G L A K L P L D N K T S T P p.320
. . . . . . g.49460
AAGAAGGAGGGCCTCGCACCGCCCTCCCCCAGCCTCGTCTCCGACCTACTCAGTGAGCTC c.1020
K K E G L A P P S P S L V S D L L S E L p.340
. . . . | 05 . . g.50237
AACATCTCTGAGATCCAGAAGCTGAAGCAGCAGCTGATGCAG | ATGGAGCGGGAAAAGGCG c.1080
N I S E I Q K L K Q Q L M Q | M E R E K A p.360
. . . . . . g.50297
GGCCTGCTGGCAACGCTGCAGGACACACAGAAGCAGCTGGAGCACACGCGGGGCTCCCTG c.1140
G L L A T L Q D T Q K Q L E H T R G S L p.380
. . . . . . g.50357
TCAGAACAGCAGGAGAAGGTGACCCGCCTCACAGAGAATCTGAGTGCCCTGCGGCGCCTG c.1200
S E Q Q E K V T R L T E N L S A L R R L p.400
. . . . . . g.50417
CAGGCCAGCAAGGAGCGGCAGACAGCCCTGGACAACGAGAAGGACCGTGACAGCCATGAG c.1260
Q A S K E R Q T A L D N E K D R D S H E p.420
. . . . . . g.50477
GATGGGGACTACTACGAGGTGGACATCAACGGGCCTGAGATCTTGGCCTGCAAGTACCAT c.1320
D G D Y Y E V D I N G P E I L A C K Y H p.440
. . . . . . g.50537
GTGGCTGTGGCTGAGGCTGGCGAGCTCCGCGAGCAGCTCAAGGCACTGCGCAGCACGCAC c.1380
V A V A E A G E L R E Q L K A L R S T H p.460
. . . . . . g.50597
GAGGCTCGTGAGGCCCAGCACGCCGAGGAGAAGGGCCGCTATGAGGCTGAGGGCCAGGCA c.1440
E A R E A Q H A E E K G R Y E A E G Q A p.480
. . . . . . g.50657
CTCACGGAGAAGGTCTCCCTGCTAGAGAAGGCCAGCCGCCAGGACCGCGAGCTGCTGGCC c.1500
L T E K V S L L E K A S R Q D R E L L A p.500
. . . . . . g.50717
CGGCTGGAGAAGGAGCTAAAGAAGGTGAGCGACGTCGCCGGCGAGACACAGGGCAGCCTG c.1560
R L E K E L K K V S D V A G E T Q G S L p.520
. . . . . . g.50777
AGTGTGGCCCAGGATGAGCTGGTGACCTTCAGTGAGGAGCTGGCCAATCTCTACCACCAC c.1620
S V A Q D E L V T F S E E L A N L Y H H p.540
. . . . . . g.50837
GTGTGCATGTGCAACAATGAGACACCCAACCGTGTCATGCTGGACTACTACCGCGAGGGC c.1680
V C M C N N E T P N R V M L D Y Y R E G p.560
. . . . . . g.50897
CAGGGCGGGGCCGGCCGCACCAGTCCCGGGGGCCGCACCAGCCCCGAGGCGCGTGGCCGG c.1740
Q G G A G R T S P G G R T S P E A R G R p.580
. . . . . . g.50957
CGCTCACCCATCCTCCTACCCAAGGGGCTGCTGGCTCCTGAGGCGGGCCGAGCAGATGGT c.1800
R S P I L L P K G L L A P E A G R A D G p.600
. . . . . . g.51017
GGGACGGGGGACAGCAGCCCCTCGCCTGGCTCCTCACTGCCATCACCCCTGAGTGACCCA c.1860
G T G D S S P S P G S S L P S P L S D P p.620
. . . . . . g.51077
CGCCGGGAGCCCATGAACATCTACAACCTGATCGCTATCATCCGTGACCAGATCAAGCAC c.1920
R R E P M N I Y N L I A I I R D Q I K H p.640
. . . . . . g.51137
CTGCAGGCAGCCGTGGACCGCACCACGGAGCTGTCACGCCAGCGCATTGCCTCTCAGGAG c.1980
L Q A A V D R T T E L S R Q R I A S Q E p.660
. . . . . . g.51197
CTGGGCCCCGCCGTGGACAAGGACAAGGAAGCGCTTATGGAGGAGATCCTCAAGCTGAAG c.2040
L G P A V D K D K E A L M E E I L K L K p.680
. . . . . . g.51257
TCGCTGCTCAGCACCAAGCGGGAGCAGATCACCACGCTGCGCACTGTGCTCAAGGCCAAC c.2100
S L L S T K R E Q I T T L R T V L K A N p.700
| 06 . . . . . . g.51907
AAGCAG | ACGGCCGAGGTGGCCCTTGCCAACCTGAAGAGCAAGTATGAGAATGAGAAGGCC c.2160
K Q | T A E V A L A N L K S K Y E N E K A p.720
. . . . . . g.51967
ATGGTTACCGAGACCATGATGAAGCTGCGCAATGAGCTCAAGGCCCTCAAGGAGGACGCA c.2220
M V T E T M M K L R N E L K A L K E D A p.740
. . . | 07 . . g.54360
GCCACCTTCTCCTCGCTGCGTGCTATGTTTGCCACCAG | GTGTGACGAGTACATTACACAG c.2280
A T F S S L R A M F A T R | C D E Y I T Q p.760
. . . . . . g.54420
CTGGATGAGATGCAGCGGCAGCTGGCGGCTGCTGAGGACGAGAAGAAGACGCTGAACTCG c.2340
L D E M Q R Q L A A A E D E K K T L N S p.780
. . . . . . g.54480
CTGCTGCGCATGGCCATCCAGCAGAAGCTGGCGCTGACCCAGCGGCTGGAGCTGCTCGAG c.2400
L L R M A I Q Q K L A L T Q R L E L L E p.800
. . . . . . g.54540
CTGGACCATGAGCAGACCCGGCGTGGCCGTGCCAAAGCCGCCCCGAAGACCAAGCCAGCC c.2460
L D H E Q T R R G R A K A A P K T K P A p.820
| 08 g.56391
ACACCGAGC | CTGTAG c.2475
T P S | L X p.824
. . . . . . g.56451
agtagctgccaggaggacttggccacccggccctgtcacactgcagccccttccccttcc c.*60
. . . . . . g.56511
ctctcgtggcccacaaggaggaaggaagggcaacctaaaagcccacttagaaactttttg c.*120
. . . . . . g.56571
gatatgccactgcaattcttttcaaaatagcattccccaggtttttaatgggaggaaaaa c.*180
. . . . . . g.56631
aagctttaatgttgagcatgctgcgagctgctgcgtggaaaggcctctgtatgggccgaa c.*240
. . . . . . g.56691
gacccttcttccctggctgccaggctcgccaggagcccactggaaacgcccaccacgggg c.*300
. . . . . . g.56751
gctccttgttacacatgttctttttttatccgatcaacctgtgcacttttgatattttga c.*360
. . . . . . g.56811
tattatatttgcttccttaattcctcgcgtagagacggtctcaggtgccgtggtctatgc c.*420
. . . . . . g.56871
tcgtggtcctgtagctgtccgcctcagctcccaccgtgtttgtctggtgtcagcacgagg c.*480
. . . . . . g.56931
cagagctgtgtgctccatagcgtgtagctttagactcggagatgagtgctttgacccagc c.*540
. . . . . . g.56991
gaggagctcagctaagtgtatccacgctgtggttcagcagcctttagatcatacggcatt c.*600
. . . . . . g.57051
gtggttcatgtttgaaattacagattttaaatgccatgttcattaagaaatccagggtat c.*660
. . . . . . g.57111
tcagattctggggtttttcatattgtattattattattcttaggaatagttcaatgtaac c.*720
. . . . . . g.57171
aagaagaaaacttgacctttgctctggttaaaacagtaataggcacttgaaaaaaaaaga c.*780
. . . . . . g.57231
taaattattgaatgagtagtattacctacaaattccagaattttctgggttttaggacgt c.*840
. . . . . . g.57291
tgtgaagcatgactgattaacagaattttatacaactgtaccaataaaattccaaattgg c.*900
. . . . . . g.57351
aattgttttgttactctggttgttgtgccaaattgtggtacacttagaaaattctacagt c.*960
. . . . . . g.57411
cgtcgatttttagggtgttctctttcaacacctttttgttagtaatcattgccagtagtg c.*1020
. . . . . . g.57471
ccttcatcagttaagggaggtgtcccagcacagatcattctcaaaagcgagcagggaaga c.*1080
. . . . . . g.57531
gctagtgggcatgctgaaggccagcgtggacagcaggtgaggcaggtgctcctcacaccc c.*1140
. . . . . . g.57591
agacctgggcatcttcattgagggaaagaaaacagtcattgtgcaaaattctgttagtca c.*1200
. . . . . . g.57651
gtgattctttacttgcaaattcaggggcttagaaaatgaaagcaaacacaaaaccttgag c.*1260
. . . . . . g.57711
tgtgctttgggaaccaaatggaccttctgggacaagctgagcaagctgtatgaacgccac c.*1320
. . . . . . g.57771
gtttgtgaagagctgagggtatcaggagggccgacgctgtgttggcatgcgcagtagggg c.*1380
. . . . . . g.57831
atgagggttagccatagtattctttgcaaatgtgaaagcgagacattatatcttctcttg c.*1440
. . . . . . g.57891
cttggtgtaactaatcactgttaatttcaggaaacagaactcattaaaactccttagcaa c.*1500
. . . . . . g.57951
accaggtctacatcctgttttgtttgctgagtgaggttagtgggagtggtcaaattggta c.*1560
. . . . . . g.58011
ctcttggaggaagaaaaactgtccttccttctccaaaaaaggaaaaattataataatata c.*1620
. . . . . . g.58071
aatgacaaaaataaaagaattctgtttcctggaataagcatttcttattcctagttgtag c.*1680
. . . . . . g.58131
ggactcctatttttaccttccgttacagtgttgattcataagaaatattgttacatttga c.*1740
. . . . . . g.58191
gataacttcatctgtatggggtatttatttgcaatgatgtctgagtactgtattttttct c.*1800
. . . . . . g.58251
gtgcattaccttagtgtcagaatgttggtctttattttaaagtcatatgcatgttctcct c.*1860
. . . . . . g.58311
gccaaggaacctttacacagacccaaacaaaaaaataataatcaaatgccttcaatttct c.*1920
. . . . . . g.58371
gagaaaatgaggcagagcatggaaaaggaataggaaggagaaattaattgagattttcag c.*1980
. . . . . . g.58431
gacacagacatatgatgtgaatgcctacaaagccagtgcgcataggaacagtgggcctgg c.*2040
. . . . . g.58484
gtaaagagtcacattggtaggaccaataaagaataataaaaagacaaagcaca c.*2093
(downstream sequence)
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