Canonical Allele Identifier: CA2651182881

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762714-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762714G>T , CM000663.2:g.236762714G>T	GRCh38
NC_000001.10:g.236926014G>T , CM000663.1:g.236926014G>T	GRCh37
NC_000001.9:g.234992637G>T	NCBI36
NG_009081.1:g.81245G>T
NG_009081.2:g.103574G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*95G>T	ENSP00000443495.1:n.*95G>T
ENST00000461367.2:n.1076G>T
ENST00000492634.7:n.2710G>T
ENST00000682015.1:c.*95G>T	ENSP00000506961.1:n.*95G>T
ENST00000682490.1:n.698G>T
ENST00000682692.1:n.3875G>T
ENST00000682966.1:n.8421G>T
ENST00000683111.1:c.*2066G>T	ENSP00000507913.1:n.*2066G>T
ENST00000683322.1:n.4132G>T
ENST00000683805.1:n.1571G>T
ENST00000684050.1:n.5418G>T
ENST00000684122.1:n.2214G>T
ENST00000684286.1:n.4335G>T
ENST00000684502.1:n.4077G>T
ENST00000684763.1:n.1395G>T
ENST00000366578.6:c.*95G>T MANE Select	ENSP00000355537.4:n.*95G>T
ENST00000492634.6:n.2710G>T
ENST00000542672.6:c.*95G>T	ENSP00000443495.1:n.*95G>T
ENST00000651275.1:c.2672G>T	ENSP00000498926.1:n.2672G>T
ENST00000651781.1:c.1860G>T
ENST00000651786.1:c.*2152G>T	ENSP00000498364.1:n.*2152G>T
ENST00000652096.1:c.*2185G>T	ENSP00000498896.1:n.*2185G>T
ENST00000366578.5:c.*95G>T	ENSP00000355537.4:n.*95G>T
ENST00000542672.5:c.*95G>T	ENSP00000443495.1:n.*95G>T
ENST00000546208.5:c.*95G>T	ENSP00000438384.2:n.*95G>T
NM_001103.3:c.*95G>T	NP_001094.1:n.*95G>T
NM_001278343.1:c.*95G>T	NP_001265272.1:n.*95G>T
NM_001278344.1:c.*95G>T	NP_001265273.1:n.*95G>T
NM_001278343.2:c.*95G>T	NP_001265272.1:n.*95G>T
NM_001103.4:c.*95G>T MANE Select	NP_001094.1:n.*95G>T
NM_001278344.2:c.*95G>T	NP_001265273.1:n.*95G>T