(used for variant description)
(last modified November 12, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_172364.4 in the CACNA2D4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012663.2, covering CACNA2D4 transcript NM_172364.4.
(upstream sequence)
. . . . . g.5051
agaggagaggccagcggattaaagggtttcatgttgccacagcctctcccc c.-181
. . . . . . g.5111
cagtccctgtctccgaggcctgcttgctaggtggggcgactcttctgtgagctgcagctg c.-121
. . . . . . g.5171
tggggcagagagaagccctccccacccaggactgagaggctggagaccccaggctcgcca c.-61
. . . . . . g.5231
aggcacggaagacaaaggcctggggcgtcctggggtctgggaggaaggcagacagagctc c.-1
. . . . . . g.5291
ATGGTCTGTGGCTGCTCTGCCCTCCTTCCCCTCCCCAACCCCAGGCCCACCATGCCTGCA c.60
M V C G C S A L L P L P N P R P T M P A p.20
. . . . . . g.5351
ACTCCCAACTTCCTCGCAAACCCCAGCTCCAGCAGCCGCTGGATTCCCCTCCAGCCAATG c.120
T P N F L A N P S S S S R W I P L Q P M p.40
. . . . . . g.5411
CCCGTGGCCTGGGCCTTTGTGCAGAAGACCTCGGCCCTCCTGTGGCTGCTGCTTCTAGGC c.180
P V A W A F V Q K T S A L L W L L L L G p.60
. . . . | 02. . g.8782
ACCTCCCTGTCCCCTGCGTGGGGACAGGCCAAGATTCCTCTGGAAAC | AGTGAAGCTATGG c.240
T S L S P A W G Q A K I P L E T | V K L W p.80
. . . . . . g.8842
GCTGACACCTTCGGCGGGGACCTGTATAACACTGTGACCAAATACTCAGGCTCTCTCTTG c.300
A D T F G G D L Y N T V T K Y S G S L L p.100
| 03 . . . . . g.10616
CTGCAGAAG | AAGTACAAGGATGTGGAGTCCAGTCTGAAGATCGAGGAGGTGGATGGCTTG c.360
L Q K | K Y K D V E S S L K I E E V D G L p.120
. . . . . . g.10676
GAGCTGGTGAGGAAGTTCTCAGAGGACATGGAGAACATGCTGCGGAGGAAAGTCGAGGCG c.420
E L V R K F S E D M E N M L R R K V E A p.140
| 04 . . . . . . g.13793
GTCCAG | AATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCC c.480
V Q | N L V E A A E E A D L N H E F N E S p.160
| 05 . . . . . . g.15721
CTGGTG | TTCGACTATTACAACTCGGTCCTGATCAACGAGAGGGACGAGAAGGGCAACTTC c.540
L V | F D Y Y N S V L I N E R D E K G N F p.180
. . . . . . g.15781
GTGGAGCTGGGCGCCGAGTTCCTCCTGGAGTCCAATGCTCACTTCAGCAACCTGCCGGTG c.600
V E L G A E F L L E S N A H F S N L P V p.200
. . . . | 06 . g.16144
AACACCTCCATCAGCAGCGTGCAGCTGCCCACCAACGTGTACAACAAAG | ACCCAGATATT c.660
N T S I S S V Q L P T N V Y N K D | P D I p.220
. . . . . . g.16204
TTAAATGGAGTCTACATGTCTGAAGCCTTGAATGCTGTCTTCGTGGAGAACTTCCAGAGA c.720
L N G V Y M S E A L N A V F V E N F Q R p.240
. . . . . . g.16264
GACCCAACGTTGACCTGGCAATATTTTGGCAGTGCAACTGGATTCTTCAGGATCTATCCA c.780
D P T L T W Q Y F G S A T G F F R I Y P p.260
| 07 . . . . . . g.36694
G | GTATAAAATGGACACCTGATGAGAATGGAGTCATTACTTTTGACTGCCGAAACCGCGGC c.840
G | I K W T P D E N G V I T F D C R N R G p.280
| 08 . . . . . . g.37389
TG | GTACATTCAAGCTGCTACTTCTCCCAAGGACATAGTGATTTTGGTGGACGTGAGCGGC c.900
W | Y I Q A A T S P K D I V I L V D V S G p.300
. . . . . . g.37449
AGTATGAAGGGGCTGAGGATGACTATTGCCAAGCACACCATCACCACCATCTTGGACACC c.960
S M K G L R M T I A K H T I T T I L D T p.320
. . . | 09 . . . g.37692
CTGGGGGAGAATGACTTCATTAATATCATAGCG | TACAATGACTACGTCCATTACATCGAG c.1020
L G E N D F I N I I A | Y N D Y V H Y I E p.340
. . . . | 10 . g.38640
CCTTGTTTTAAAGGGATCCTCGTCCAGGCGGACCGAGACAATCGAGAG | CATTTCAAACTG c.1080
P C F K G I L V Q A D R D N R E | H F K L p.360
. . . . . . g.38700
CTGGTGGAGGAGTTGATGGTCAAAGGTGTGGGGGTCGTGGACCAAGCCCTGAGAGAAGCC c.1140
L V E E L M V K G V G V V D Q A L R E A p.380
. | 11 . . . . g.38865
TTCCAGATCCTGAAGCAG | TTCCAAGAGGCCAAGCAAGGAAGCCTCTGCAACCAGGCCATC c.1200
F Q I L K Q | F Q E A K Q G S L C N Q A I p.400
. . . . . . g.38925
ATGCTCATCAGCGACGGCGCCGTGGAGGACTACGAGCCGGTGTTTGAGAAGTATAACTGG c.1260
M L I S D G A V E D Y E P V F E K Y N W p.420
. | 12 . . . . . g.39431
CCAGACTGTAAG | GTCCGAGTTTTCACTTACCTCATTGGGAGAGAAGTGTCTTTTGCTGAC c.1320
P D C K | V R V F T Y L I G R E V S F A D p.440
. . . | 13 . . . g.40733
CGCATGAAGTGGATTGCATGCAACAACAAAG | GCTACTACACGCAGATCTCAACGCTGGCG c.1380
R M K W I A C N N K G | Y Y T Q I S T L A p.460
. . . . . . g.40793
GACACCCAGGAGAACGTGATGGAATACCTGCACGTGCTCAGCCGCCCCATGGTCATCAAC c.1440
D T Q E N V M E Y L H V L S R P M V I N p.480
. . . . | 14 . . g.43838
CACGACCACGACATCATCTGGACAGAGGCCTACATGGACAGCAAG | CTCCTCAGCTCGCAG c.1500
H D H D I I W T E A Y M D S K | L L S S Q p.500
. . . . . . g.43898
GCTCAGAGCCTGACACTGCTCACCACTGTGGCCATGCCAGTCTTCAGCAAGAAGAACGAA c.1560
A Q S L T L L T T V A M P V F S K K N E p.520
| 15 . . . . . . g.44725
ACG | CGATCCCATGGCATTCTCCTGGGTGTGGTGGGCTCAGATGTGGCCCTGAGAGAGCTG c.1620
T | R S H G I L L G V V G S D V A L R E L p.540
. . | 16 . . . . g.45351
ATGAAGCTGGCGCCCCGGTACAAG | CTTGGAGTGCACGGATACGCCTTTCTGAACACCAAC c.1680
M K L A P R Y K | L G V H G Y A F L N T N p.560
. . . | 17 . . g.48388
AATGGCTACATCCTCTCCCATCCCGACCTCCGGCCCCTG | TACAGAGAGGGGAAGAAACTA c.1740
N G Y I L S H P D L R P L | Y R E G K K L p.580
. . . . . . g.48448
AAACCCAAACCTAACTACAACAGTGTGGATCTCTCCGAAGTGGAGTGGGAAGACCAGGCT c.1800
K P K P N Y N S V D L S E V E W E D Q A p.600
| 18 . . . . . . g.49083
GAATCT | CTGAGAACAGCCATGATCAATAGGGAAACAGGTACTCTCTCGATGGATGTGAAG c.1860
E S | L R T A M I N R E T G T L S M D V K p.620
. | 19 . . . . g.63540
GTTCCGATGGATAAAGGG | AAGCGAGTTCTTTTCCTGACCAATGACTACTTCTTCACGGAC c.1920
V P M D K G | K R V L F L T N D Y F F T D p.640
. . | 20 . . . . g.65100
ATCAGCGACACCCCTTTCAG | TTTGGGGGTGGTGCTGTCCCGGGGCCACGGAGAATACATC c.1980
I S D T P F S | L G V V L S R G H G E Y I p.660
. . | 21 . . . g.67507
CTTCTGGGGAACACGTCTGTGGAAGAAG | GCCTGCATGACTTGCTTCACCCAGACCTGGCC c.2040
L L G N T S V E E G | L H D L L H P D L A p.680
. | 22 . . . . . g.67641
CTGGCCGGTGACTG | GATCTACTGCATCACAGATATTGACCCAGACCACCGGAAGCTCAGC c.2100
L A G D W | I Y C I T D I D P D H R K L S p.700
. . . . . | 23 . g.69668
CAGCTAGAGGCCATGATCCGCTTCCTCACCAGGAAGGACCCAGACCTGGAGT | GTGACGAG c.2160
Q L E A M I R F L T R K D P D L E C | D E p.720
. . . . . . g.69728
GAGCTGGTCCGGGAGGTGCTGTTTGACGCGGTGGTGACAGCCCCCATGGAAGCCTACTGG c.2220
E L V R E V L F D A V V T A P M E A Y W p.740
. . | 24 . . . . g.77049
ACAGCGCTGGCCCTCAACATGTCCGA | GGAGTCTGAACACGTGGTGGACATGGCCTTCCTG c.2280
T A L A L N M S E | E S E H V V D M A F L p.760
. . . . . . g.77109
GGCACCCGGGCTGGCCTCCTGAGAAGCAGCTTGTTCGTGGGCTCCGAGAAGGTCTCCGAC c.2340
G T R A G L L R S S L F V G S E K V S D p.780
| 25 . . . . . . g.79233
AG | GAAGTTCCTGACACCTGAGGACGAGGCCAGCGTGTTCACCCTGGACCGCTTCCCGCTG c.2400
R | K F L T P E D E A S V F T L D R F P L p.800
. . . . . . g.79293
TGGTACCGCCAGGCCTCAGAGCATCCTGCTGGCAGCTTCGTCTTCAACCTCCGCTGGGCA c.2460
W Y R Q A S E H P A G S F V F N L R W A p.820
. | 26 . . . . . g.82935
GAAGGACCAG | AAAGTGCGGGTGAACCCATGGTGGTGACGGCAAGCACAGCTGTGGCGGTG c.2520
E G P E | S A G E P M V V T A S T A V A V p.840
. . . | 27 . . . g.112010
ACCGTGGACAAGAGGACAGCCATTGCTGCAG | CCGCGGGCGTCCAAATGAAGCTGGAATTC c.2580
T V D K R T A I A A A | A G V Q M K L E F p.860
. . . | 28 . . . g.113144
CTCCAGCGCAAATTCTGGGCGGCAACGCGGCAG | TGCAGCACTGTGGATGGGCCGTGCACA c.2640
L Q R K F W A A T R Q | C S T V D G P C T p.880
. | 29 . . . . g.113406
CAGAGCTGCGAGGACAGT | GATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTG c.2700
Q S C E D S | D L D C F V I D N N G F I L p.900
. . | 30 . . . . g.122099
ATCTCCAAGAGGTCCCGAGAG | ACGGGAAGATTTCTGGGGGAGGTGGATGGTGCTGTCCTG c.2760
I S K R S R E | T G R F L G E V D G A V L p.920
. . . | 31 . . . g.122614
ACCCAGCTGCTCAGCATGGGGGTGTTCAGCCA | AGTGACTATGTATGACTATCAGGCCATG c.2820
T Q L L S M G V F S Q | V T M Y D Y Q A M p.940
. . . . | 32 . g.123278
TGCAAACCCTCGAGTCACCACCACAGTGCAGCCCAGCCCCTGGTCAGC | CCAATTTCTGCC c.2880
C K P S S H H H S A A Q P L V S | P I S A p.960
. . . . | 33 . . g.123671
TTCTTGACGGCGACCAGGTGGCTGCTGCAGGAGCTGGTGCT | GTTCCTGCTGGAGTGGAGT c.2940
F L T A T R W L L Q E L V L | F L L E W S p.980
. . . | 34 . . | 35 . g.126174
GTCTGGGGCTCCTGGTACGACAGAGGGGCCGAGG | CCAAAAGTGTCTTCCATCACT | CCCAC c.3000
V W G S W Y D R G A E A | K S V F H H S | H p.1000
. . . . . . g.126234
AAACACAAGAAGCAGGACCCGCTGCAGCCCTGCGACACGGAGTACCCCGTGTTCGTGTAC c.3060
K H K K Q D P L Q P C D T E Y P V F V Y p.1020
. . . . . | 36 . g.127931
CAGCCGGCCATCCGGGAGGCCAACGGGATCGTGGAGTGCGGGCCCTGCCAGAA | GGTATTT c.3120
Q P A I R E A N G I V E C G P C Q K | V F p.1040
. . . . . . g.127991
GTGGTGCAGCAGATTCCCAACAGTAACCTCCTCCTCCTGGTGACAGACCCCACCTGTGAC c.3180
V V Q Q I P N S N L L L L V T D P T C D p.1060
. . . . | 37 . . g.128337
TGCAGCATCTTCCCACCAGTGCTGCAGGAGGCGACAGAAGTCAAAT | ATAATGCCTCTGTC c.3240
C S I F P P V L Q E A T E V K Y | N A S V p.1080
. . . . . . g.128397
AAATGTGACCGGATGCGCTCCCAGAAGCTCCGCCGGCGACCAGACTCCTGCCACGCCTTC c.3300
K C D R M R S Q K L R R R P D S C H A F p.1100
| 38 . . . . . g.129996
CATCCAGAG | GAGAATGCCCAGGACTGCGGCGGCGCCTCGGACACCTCAGCCTCGCCGCCC c.3360
H P E | E N A Q D C G G A S D T S A S P P p.1120
. . . . . g.130050
CTACTCCTGCTGCCTGTGTGTGCCTGGGGGCTACTGCCCCAACTCCTGCGGTGA c.3414
L L L L P V C A W G L L P Q L L R X p.1137
. . . . . . g.130110
caccacccagcctgacctgtgttttggcaaggtgatccttccagagccatcccaaaaagt c.*60
. . . . . . g.130170
cagcactgacatgggatgcagctaactgcagttgggtcgcccccaggccaacgctcctct c.*120
. . . . . . g.130230
caatcctgggctggtggcccctggctccggagaatgctggatggaacaggaaaccaatca c.*180
. . . . . . g.130290
cctggcaccactttcaagatgcttcatggtgcccggtaccatctgccctaggtctcaaca c.*240
. . . . . . g.130350
tgagcatacttctgacctaaccttcctgtctcctcttcgggaagccagcgtgagctcagc c.*300
. . . . . . g.130410
ttggaccaagacaaaataatttagttcttcctgtactccagagtccagacccagccaaga c.*360
. . . . . . g.130470
aagggtcagttgtttctgaccctttctgtcggagtggtctctggtagaacccaaggactt c.*420
. . . . . . g.130530
ctgggtactgagaagcagcagcagaatgaggccaaatgcagagatgaggctaaggcaaga c.*480
. . . . . . g.130590
atatgccccaactaaagcatagattccccaaagtgaggctcatggtgggaggccactcac c.*540
. . . . . . g.130650
cttcctagctgctgctcgaaaaggttttgactgtgttggggtgggggttgggtaagggaa c.*600
. . . . . . g.130710
tggtcaagactgagaaaggaatgaaatccattcaggaaatatcgacagggctacacgtga c.*660
. . . . . . g.130770
tgtccccaaactgctgctattgaagaacttcccaaaacttctttacaaagccctaaagga c.*720
. . . . . . g.130830
aagtttgcatctatgaaaagccaataggctgagacatccaattgctgcatggaaattgat c.*780
. . . . . . g.130890
gtacattcaggggacggcaaaaatagctgtaaaatagtgaaaaagagcagtggttgtgct c.*840
. . . . . . g.130950
cttttctggccaatgatttacaaaagaatctacttgactctgtccctggagtgaaatcct c.*900
. . . . . . g.131010
tagggttggaacttgtgggaacattccaacttgctaagcagggtccactgggagggaagc c.*960
. . . . . . g.131070
tctatctgggaactcacccccagcgcacacacatctcccccagggtcccaaggccccgca c.*1020
. . . . . . g.131130
gcttcctcccccgaccaaaccccaagacctggatcccaggagacaacagtctccacagtg c.*1080
. . . . . . g.131190
agagcaacattaagggcaaagccatggagaaatgtgggagaggccggcctcaaatctttc c.*1140
. . . . . . g.131250
catttaacaaaccccagtgatgggtatggacagcatgcagggcttttggggcgcttcccc c.*1200
. . . . . . g.131310
ccgctcctccatcaccctcagcctccacacttcaaagttcaagttcaaagctgttcaagt c.*1260
. . . . . . g.131370
ttcctaccagcaaatagccctaacttgcctctagagtaggccaaatgccaactctgtaaa c.*1320
. . . . . . g.131430
acacacttacattatcggttacagaatgtcactcttaccgtcatgtcttgcaacaaccct c.*1380
. . . . . . g.131490
gtgagggcagtattaatgcccccttacagcagaagacactgcagctcgaagacagcttaa c.*1440
. . . . . . g.131550
gtggcagaataatgctagaacagctaaggtttacatgtaccaaataacatgtttcagctc c.*1500
. . . . . . g.131610
attccatcctcacaacagccccctgaaagtgggtactatcattagtcccatgttatagaa c.*1560
. . . . . . g.131670
actgcagcagagttgaaaattgcctccaaattaccggaagagtgtatgaagattgaatgt c.*1620
. . . . . . g.131730
gatgtattcacgtaacatgcttgaaactgcctggcatatactaaacgctaaataaataca c.*1680
. g.131748
tgctaactgcgatcatta c.*1698
(downstream sequence)
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