Canonical Allele Identifier: CA39748469

Gene: ACTN2

Linked Data

• dbSNP Id: rs1002179172
• gnomAD v2: 1-236926004-T-C
• gnomAD v3: 1-236762704-T-C
• gnomAD v4: 1-236762704-T-C
• MyVariant Identifiers: chr1:g.236926004T>C (hg19) ; chr1:g.236762704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762704T>C , CM000663.2:g.236762704T>C	GRCh38
NC_000001.10:g.236926004T>C , CM000663.1:g.236926004T>C	GRCh37
NC_000001.9:g.234992627T>C	NCBI36
NG_009081.1:g.81235T>C
NG_009081.2:g.103564T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*85T>C	ENSP00000443495.1:n.*85T>C
ENST00000461367.2:n.1066T>C
ENST00000492634.7:n.2700T>C
ENST00000682015.1:c.*85T>C	ENSP00000506961.1:n.*85T>C
ENST00000682490.1:n.688T>C
ENST00000682692.1:n.3865T>C
ENST00000682966.1:n.8411T>C
ENST00000683111.1:c.*2056T>C	ENSP00000507913.1:n.*2056T>C
ENST00000683322.1:n.4122T>C
ENST00000683805.1:n.1561T>C
ENST00000684050.1:n.5408T>C
ENST00000684122.1:n.2204T>C
ENST00000684286.1:n.4325T>C
ENST00000684502.1:n.4067T>C
ENST00000684763.1:n.1385T>C
ENST00000366578.6:c.*85T>C MANE Select	ENSP00000355537.4:n.*85T>C
ENST00000492634.6:n.2700T>C
ENST00000542672.6:c.*85T>C	ENSP00000443495.1:n.*85T>C
ENST00000651275.1:c.2662T>C	ENSP00000498926.1:n.2662T>C
ENST00000651781.1:c.1850T>C
ENST00000651786.1:c.*2142T>C	ENSP00000498364.1:n.*2142T>C
ENST00000652096.1:c.*2175T>C	ENSP00000498896.1:n.*2175T>C
ENST00000366578.5:c.*85T>C	ENSP00000355537.4:n.*85T>C
ENST00000542672.5:c.*85T>C	ENSP00000443495.1:n.*85T>C
ENST00000546208.5:c.*85T>C	ENSP00000438384.2:n.*85T>C
NM_001103.3:c.*85T>C	NP_001094.1:n.*85T>C
NM_001278343.1:c.*85T>C	NP_001265272.1:n.*85T>C
NM_001278344.1:c.*85T>C	NP_001265273.1:n.*85T>C
NM_001278343.2:c.*85T>C	NP_001265272.1:n.*85T>C
NM_001103.4:c.*85T>C MANE Select	NP_001094.1:n.*85T>C
NM_001278344.2:c.*85T>C	NP_001265273.1:n.*85T>C