Canonical Allele Identifier: CA39741965
Gene: ACTN2 HGNC NCBI

Linked Data

dbSNP Id: rs753010996
gnomAD v2: 1-236918512-A-G
gnomAD v3: 1-236755212-A-G
gnomAD v4: 1-236755212-A-G
MyVariant Identifiers: chr1:g.236918512A>G (hg19) chr1:g.236755212A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236755212A>G , CM000663.2:g.236755212A>G GRCh38
NC_000001.10:g.236918512A>G , CM000663.1:g.236918512A>G GRCh37
NC_000001.9:g.234985135A>G NCBI36
NG_009081.1:g.73743A>G
NG_009081.2:g.96072A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000542672.7:c.2154+14A>G ENSP00000443495.1:n.2154+14A>G
ENST00000461367.2:n.450+14A>G
ENST00000492634.7:n.2084+14A>G
ENST00000682015.1:c.2061+14A>G ENSP00000506961.1:n.2061+14A>G
ENST00000682692.1:n.3249+14A>G
ENST00000682966.1:n.7795+14A>G
ENST00000683111.1:c.*1440+14A>G ENSP00000507913.1:n.*1440+14A>G
ENST00000683322.1:n.3506+14A>G
ENST00000683805.1:n.945+14A>G
ENST00000684050.1:n.4792+14A>G
ENST00000684122.1:n.301+14A>G
ENST00000684286.1:n.3709+14A>G
ENST00000684502.1:n.3451+14A>G
ENST00000684763.1:n.769+14A>G
ENST00000366578.6:c.2154+14A>G MANE Select ENSP00000355537.4:n.2154+14A>G
ENST00000492634.6:n.2084+14A>G
ENST00000542672.6:c.2154+14A>G ENSP00000443495.1:n.2154+14A>G
ENST00000651091.1:c.1844+14A>G ENSP00000498677.1:n.1844+14A>G
ENST00000651275.1:c.2046+14A>G ENSP00000498926.1:n.2046+14A>G
ENST00000651781.1:c.1234+14A>G
ENST00000651786.1:c.*1526+14A>G ENSP00000498364.1:n.*1526+14A>G
ENST00000652096.1:c.*1559+14A>G ENSP00000498896.1:n.*1559+14A>G
ENST00000366578.5:c.2154+14A>G ENSP00000355537.4:n.2154+14A>G
ENST00000461367.1:n.363+14A>G
ENST00000542672.5:c.2154+14A>G ENSP00000443495.1:n.2154+14A>G
ENST00000546208.5:c.1530+14A>G ENSP00000438384.2:n.1530+14A>G
NM_001103.3:c.2154+14A>G NP_001094.1:n.2154+14A>G
NM_001278343.1:c.2154+14A>G NP_001265272.1:n.2154+14A>G
NM_001278344.1:c.1530+14A>G NP_001265273.1:n.1530+14A>G
NM_001278343.2:c.2154+14A>G NP_001265272.1:n.2154+14A>G
NM_001103.4:c.2154+14A>G MANE Select NP_001094.1:n.2154+14A>G
NM_001278344.2:c.1530+14A>G NP_001265273.1:n.1530+14A>G
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