Canonical Allele Identifier: CA2651182833

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762620-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762620T>C , CM000663.2:g.236762620T>C	GRCh38
NC_000001.10:g.236925920T>C , CM000663.1:g.236925920T>C	GRCh37
NC_000001.9:g.234992543T>C	NCBI36
NG_009081.1:g.81151T>C
NG_009081.2:g.103480T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.*1T>C	ENSP00000443495.1:n.*1T>C
ENST00000461367.2:n.982T>C
ENST00000492634.7:n.2616T>C
ENST00000682015.1:c.*1T>C	ENSP00000506961.1:n.*1T>C
ENST00000682490.1:n.604T>C
ENST00000682692.1:n.3781T>C
ENST00000682966.1:n.8327T>C
ENST00000683111.1:c.*1972T>C	ENSP00000507913.1:n.*1972T>C
ENST00000683322.1:n.4038T>C
ENST00000683805.1:n.1477T>C
ENST00000684050.1:n.5324T>C
ENST00000684122.1:n.2120T>C
ENST00000684286.1:n.4241T>C
ENST00000684502.1:n.3983T>C
ENST00000684763.1:n.1301T>C
ENST00000366578.6:c.*1T>C MANE Select	ENSP00000355537.4:n.*1T>C
ENST00000492634.6:n.2616T>C
ENST00000542672.6:c.*1T>C	ENSP00000443495.1:n.*1T>C
ENST00000651275.1:c.2578T>C	ENSP00000498926.1:n.2578T>C
ENST00000651781.1:c.1766T>C
ENST00000651786.1:c.*2058T>C	ENSP00000498364.1:n.*2058T>C
ENST00000652096.1:c.*2091T>C	ENSP00000498896.1:n.*2091T>C
ENST00000366578.5:c.*1T>C	ENSP00000355537.4:n.*1T>C
ENST00000542672.5:c.*1T>C	ENSP00000443495.1:n.*1T>C
ENST00000546208.5:c.*1T>C	ENSP00000438384.2:n.*1T>C
NM_001103.3:c.*1T>C	NP_001094.1:n.*1T>C
NM_001278343.1:c.*1T>C	NP_001265272.1:n.*1T>C
NM_001278344.1:c.*1T>C	NP_001265273.1:n.*1T>C
NM_001278343.2:c.*1T>C	NP_001265272.1:n.*1T>C
NM_001103.4:c.*1T>C MANE Select	NP_001094.1:n.*1T>C
NM_001278344.2:c.*1T>C	NP_001265273.1:n.*1T>C