(used for variant description)
(last modified November 26, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_032982.3 in the CASP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering CASP2 transcript NM_032982.3.
(upstream sequence)
g.5001
c c.-241
. . . . . . g.5061
ttttgtctgtccgccgagcaccccacttcaccccattggaccgcgcggccgccgctagag c.-181
. . . . . . g.5121
ctctgcgcctgcgcacgcaccgggccggggactgggtggcctggtgtgtgggcgcggcag c.-121
. . . . . . g.5181
ggcgcaggcgcaggcgcagtgtgcgtccgcgtctgaggggagggatgtgggggaagcgac c.-61
. . . . . . g.5241
ggcccccggtttgtttgggctgtgggcggtgcgcagcggagagcccgggaaaagcgggaa c.-1
. . . . . . g.5301
ATGGCGGCGCCGAGCGCGGGGTCTTGGTCCACCTTCCAGCACAAGGAGCTGATGGCCGCT c.60
M A A P S A G S W S T F Q H K E L M A A p.20
. | 02 . . . . . g.8371
GACAGGGGACGCAG | GATATTGGGAGTGTGTGGCATGCATCCTCATCATCAGGAAACTCTA c.120
D R G R R | I L G V C G M H P H H Q E T L p.40
. . . . . . g.8431
AAAAAGAACCGAGTGGTGCTAGCCAAACAGCTGTTGTTGAGCGAATTGTTAGAACATCTT c.180
K K N R V V L A K Q L L L S E L L E H L p.60
. . . . | 03 . . g.9100
CTGGAGAAGGACATCATCACCTTGGAAATGAGGGAGCTCATCCAG | GCCAAAGTGGGCAGT c.240
L E K D I I T L E M R E L I Q | A K V G S p.80
. . . . . . g.9160
TTCAGCCAGAATGTGGAACTCCTCAACTTGCTGCCTAAGAGGGGTCCCCAAGCTTTTGAT c.300
F S Q N V E L L N L L P K R G P Q A F D p.100
. . . . . . g.9220
GCCTTCTGTGAAGCACTGAGGGAGACCAAGCAAGGCCACCTGGAGGATATGTTGCTCACC c.360
A F C E A L R E T K Q G H L E D M L L T p.120
. . . | 04 . . . g.9429
ACCCTTTCTGGGCTTCAGCATGTACTCCCACCG | TTGAGCTGTGACTACGACTTGAGTCTC c.420
T L S G L Q H V L P P | L S C D Y D L S L p.140
. . . . . | 05 . g.11020
CCTTTTCCGGTGTGTGAGTCCTGTCCCCTTTACAAGAAGCTCCGCCTGTCGACAG | ATACT c.480
P F P V C E S C P L Y K K L R L S T D | T p.160
. . . . . . g.11080
GTGGAACACTCCCTAGACAATAAAGATGGTCCTGTCTGCCTTCAGGTGAAGCCTTGCACT c.540
V E H S L D N K D G P V C L Q V K P C T p.180
. . . | 06 . . . g.11412
CCTGAATTTTATCAAACACACTTCCAGCTG | GCATATAGGTTGCAGTCTCGGCCTCGTGGC c.600
P E F Y Q T H F Q L | A Y R L Q S R P R G p.200
. . . . . . g.11472
CTAGCACTGGTGTTGAGCAATGTGCACTTCACTGGAGAGAAAGAACTGGAATTTCGCTCT c.660
L A L V L S N V H F T G E K E L E F R S p.220
. . . . . . g.11532
GGAGGGGATGTGGACCACAGTACTCTAGTCACCCTCTTCAAGCTTTTGGGCTATGACGTC c.720
G G D V D H S T L V T L F K L L G Y D V p.240
. . | 07. . . . g.16741
CATGTTCTATGTGACCAGACTGCACAG | GAAATGCAAGAGAAACTGCAGAATTTTGCACAG c.780
H V L C D Q T A Q | E M Q E K L Q N F A Q p.260
. . . . . . g.16801
TTACCTGCACACCGAGTCACGGACTCCTGCATCGTGGCACTCCTCTCGCATGGTGTGGAG c.840
L P A H R V T D S C I V A L L S H G V E p.280
. . . | 08 . . . g.17013
GGCGCCATCTATGGTGTGGATGGGAAACTGCTCCAG | CTCCAAGAGGTTTTTCAGCTCTTT c.900
G A I Y G V D G K L L Q | L Q E V F Q L F p.300
. . . . . . g.17073
GACAACGCCAACTGCCCAAGCCTACAGAACAAACCAAAAATGTTCTTCATCCAGGCCTGC c.960
D N A N C P S L Q N K P K M F F I Q A C p.320
| 09. . . . . . g.20622
CGTGGAG | ATGAGACTGATCGTGGGGTTGACCAACAAGATGGAAAGAACCACGCAGGATCC c.1020
R G D | E T D R G V D Q Q D G K N H A G S p.340
. . . . . . g.20682
CCTGGGTGCGAGGAGAGTGATGCCGGTAAAGAAAAGTTGCCGAAGATGAGACTGCCCACG c.1080
P G C E E S D A G K E K L P K M R L P T p.360
. . . | 10. . . g.21482
CGCTCAGACATGATATGCGGCTATGCCTGCCTCAAAG | GGACTGCCGCCATGCGGAACACC c.1140
R S D M I C G Y A C L K G | T A A M R N T p.380
. . . . . . g.21542
AAACGAGGTTCCTGGTACATCGAGGCTCTTGCTCAAGTGTTTTCTGAGCGGGCTTGTGAT c.1200
K R G S W Y I E A L A Q V F S E R A C D p.400
. . | 11. . . . g.21758
ATGCACGTGGCCGACATGCTGGTTAAG | GTGAACGCACTTATCAAGGATCGGGAAGGTTAT c.1260
M H V A D M L V K | V N A L I K D R E G Y p.420
. . . . . . g.21818
GCTCCTGGCACAGAATTCCACCGGTGCAAGGAGATGTCTGAATACTGCAGCACTCTGTGC c.1320
A P G T E F H R C K E M S E Y C S T L C p.440
. . . g.21857
CGCCACCTCTACCTGTTCCCAGGACACCCTCCCACATGA c.1359
R H L Y L F P G H P P T X p.452
. . . . . . g.21917
tgtcacctccccatcatccacgccaagtggaagccactggaccacaggaggtgtgataga c.*60
. . . . . . g.21977
gcctttgatcttcaggatgcacggtttctgttctgccccctcagggatgtgggaatctcc c.*120
. . . . . . g.22037
cagacttgtttcctgtgcccatcatctctgcctttgagtgtgggactccaggccagctcc c.*180
. . . . . . g.22097
ttttctgtgaagccctttgcctgtagagccagccttggttggacctattgccaggaatgt c.*240
. . . . . . g.22157
ttcagctgcagttgaagagcctgacaagtgaagttgtaaacacagtgtggttatggggag c.*300
. . . . . . g.22217
agggcatataaattccccatatttgtgttcagttccagcttttgtagatggcactttagt c.*360
. . . . . . g.22277
gattgcttttattacattagttaagatgtctgagagaccatctcctatcttttatttcat c.*420
. . . . . . g.22337
tcatatcctccgccctttttgtcctagagtgagagtttggaaggtgtccaaatttaatgt c.*480
. . . . . . g.22397
agacattatcttttggctctgaagaagcaaacatgactagagacgcaccttgctgcagtg c.*540
. . . . . . g.22457
tccagaagcggcctgtgcgttcccttcagtactgcagcgccacccagtggaaggacactc c.*600
. . . . . . g.22517
ttggctcgtttgggctcaaggcaccgcagcctgtcagccaacattgccttgcatttgtac c.*660
. . . . . . g.22577
cttattgatctttgcccatggaagtctcaaagatctttcgttggttgtttctctgagctt c.*720
. . . . . . g.22637
tgttactgaaatgagcctcgtggggagcatcagagaaggccaggaagaatggtgtgtttc c.*780
. . . . . . g.22697
cctagactctgtaaccacctctctgtctttttccttcctgagaaacgtccatctctctcc c.*840
. . . . . . g.22757
cttactattcccactttcattcaatcaacctgcacttcatatctagatttctagaaaagc c.*900
. . . . . . g.22817
ttcctagcttatctccctgcttcatatctctcccttctttaccttcatttcatcctgttg c.*960
. . . . . . g.22877
gctgctgccaccaaatctgtctagaatcctgctttacaggatcatgtaaatgctcaaaga c.*1020
. . . . . . g.22937
tgtaatgtagttctttgttcctgctttctctttcagtattaaactctcctttgatattat c.*1080
. . . . . . g.22997
gtggcttttatttcagtgccatacatgttattgttttcaacctagaaacctttatccctg c.*1140
. . . . . . g.23057
cttatctgaaacttcccaacttccctgttctttaagactttttttttttttttttttttt c.*1200
. . . . . . g.23117
tttgagacagagtctcgctctgtcgcccaggctggagggcagtggcacgatctcagctca c.*1260
. . . . . . g.23177
ctgcaagctccaactcccgggttcacgccattctcctgcctcagccttccaagtagctgg c.*1320
. . . . . . g.23237
gactacaggtgcccgccaccgtgcccggctaatttttttgtatttttagtagagacaggg c.*1380
. . . . . . g.23297
tttcaccatgttagccgggatggtcttgatctcctgacctcatgatccacccacctcagc c.*1440
. . . . . . g.23357
ctcccaaagtgttgggattacaggcgtgagccactgcgcccgggcaagacctttttttaa c.*1500
. . . . . . g.23417
aaaaaaaaaaaaaaaaacttccattctttcttcctccagtctgttctcacataacagagt c.*1560
. . . . . . g.23477
agttttggtttttaattttttttggttgtttgctgttttttgttttttaaggtgagttct c.*1620
. . . . . . g.23537
cactatgtttctcagactggtctcgaactcctggcctcaagccatcttcccgcctcagcc c.*1680
. . . . . . g.23597
tctcaaatagctgggcttacaggcatgagccaccacacctggccaggatttggttgttta c.*1740
. . . . . . g.23657
aatataaatctgatcacccccctgcttagaacccttctgctttctattacccctcattta c.*1800
. . . . . . g.23717
aaatgtaaactcttcaccttggtttatgagaactggttcttgccttccccttgaacctca c.*1860
. . . . . . g.23777
ttaaatggtgatttcttgctaagctccagcccgagtggtctcctctcagcttctaatttt c.*1920
. . . . . . g.23837
gtgctctttcctgcccttttcctgggccttctcagctctccacccccaccactcttgact c.*1980
. . . . . . g.23897
caggtggtgtccttcttcctcaagtcttgacaattcccgggcccttcagtccctgagcag c.*2040
. . . . . . g.23957
tctacttctgtgtctgtcaccacatcttgtcttttcccctcattgcatttattgcagttt c.*2100
. . . . . . g.24017
atatatatgctacttttacttgttcatttctgtctcccctaccaggctgtaaatgagggc c.*2160
. . . . . . g.24077
agaaaccttgtttgttttattcaccatcatgtaccaagtgcttggcacatagtgggcctt c.*2220
. . . . . . g.24137
cattaaatgtttgttgaataaaagagggaagaaggcaagccaaccttagctacaatccta c.*2280
. . . . . . g.24197
ccttttgataaaatgttccttttgacaatatacacggattattatttgtactttgttttt c.*2340
. . . . . . g.24257
ccatgtgttttgcttttatccactggcatttttagctccttgaagacatatcatgtgtga c.*2400
. . . . . . g.24317
gataacttccttcacatctcccatggtccctagcaaaatgctaggcctgtagtagtcaag c.*2460
. . . . . . g.24377
gtgctcaataaatatttgtttgggtggtttgtgagccttgctgccaagtcctgcctttgg c.*2520
. . . . . . g.24437
gtcgacatagtatggaagtatttgagagagagaacctttccactcccactgccaggattt c.*2580
. . . . g.24482
tgtattgccatcgggtgccaaataaatgctcatatttattactga c.*2625
(downstream sequence)
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