Canonical Allele Identifier: CA2574162129

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762648-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762648T>C , CM000663.2:g.236762648T>C	GRCh38
NC_000001.10:g.236925948T>C , CM000663.1:g.236925948T>C	GRCh37
NC_000001.9:g.234992571T>C	NCBI36
NG_009081.1:g.81179T>C
NG_009081.2:g.103508T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*29T>C	ENSP00000443495.1:n.*29T>C
ENST00000461367.2:n.1010T>C
ENST00000492634.7:n.2644T>C
ENST00000682015.1:c.*29T>C	ENSP00000506961.1:n.*29T>C
ENST00000682490.1:n.632T>C
ENST00000682692.1:n.3809T>C
ENST00000682966.1:n.8355T>C
ENST00000683111.1:c.*2000T>C	ENSP00000507913.1:n.*2000T>C
ENST00000683322.1:n.4066T>C
ENST00000683805.1:n.1505T>C
ENST00000684050.1:n.5352T>C
ENST00000684122.1:n.2148T>C
ENST00000684286.1:n.4269T>C
ENST00000684502.1:n.4011T>C
ENST00000684763.1:n.1329T>C
ENST00000366578.6:c.*29T>C MANE Select	ENSP00000355537.4:n.*29T>C
ENST00000492634.6:n.2644T>C
ENST00000542672.6:c.*29T>C	ENSP00000443495.1:n.*29T>C
ENST00000651275.1:c.2606T>C	ENSP00000498926.1:n.2606T>C
ENST00000651781.1:c.1794T>C
ENST00000651786.1:c.*2086T>C	ENSP00000498364.1:n.*2086T>C
ENST00000652096.1:c.*2119T>C	ENSP00000498896.1:n.*2119T>C
ENST00000366578.5:c.*29T>C	ENSP00000355537.4:n.*29T>C
ENST00000542672.5:c.*29T>C	ENSP00000443495.1:n.*29T>C
ENST00000546208.5:c.*29T>C	ENSP00000438384.2:n.*29T>C
NM_001103.3:c.*29T>C	NP_001094.1:n.*29T>C
NM_001278343.1:c.*29T>C	NP_001265272.1:n.*29T>C
NM_001278344.1:c.*29T>C	NP_001265273.1:n.*29T>C
NM_001278343.2:c.*29T>C	NP_001265272.1:n.*29T>C
NM_001103.4:c.*29T>C MANE Select	NP_001094.1:n.*29T>C
NM_001278344.2:c.*29T>C	NP_001265273.1:n.*29T>C