Canonical Allele Identifier: CA2651182866

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762696-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762696G>T , CM000663.2:g.236762696G>T	GRCh38
NC_000001.10:g.236925996G>T , CM000663.1:g.236925996G>T	GRCh37
NC_000001.9:g.234992619G>T	NCBI36
NG_009081.1:g.81227G>T
NG_009081.2:g.103556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*77G>T	ENSP00000443495.1:n.*77G>T
ENST00000461367.2:n.1058G>T
ENST00000492634.7:n.2692G>T
ENST00000682015.1:c.*77G>T	ENSP00000506961.1:n.*77G>T
ENST00000682490.1:n.680G>T
ENST00000682692.1:n.3857G>T
ENST00000682966.1:n.8403G>T
ENST00000683111.1:c.*2048G>T	ENSP00000507913.1:n.*2048G>T
ENST00000683322.1:n.4114G>T
ENST00000683805.1:n.1553G>T
ENST00000684050.1:n.5400G>T
ENST00000684122.1:n.2196G>T
ENST00000684286.1:n.4317G>T
ENST00000684502.1:n.4059G>T
ENST00000684763.1:n.1377G>T
ENST00000366578.6:c.*77G>T MANE Select	ENSP00000355537.4:n.*77G>T
ENST00000492634.6:n.2692G>T
ENST00000542672.6:c.*77G>T	ENSP00000443495.1:n.*77G>T
ENST00000651275.1:c.2654G>T	ENSP00000498926.1:n.2654G>T
ENST00000651781.1:c.1842G>T
ENST00000651786.1:c.*2134G>T	ENSP00000498364.1:n.*2134G>T
ENST00000652096.1:c.*2167G>T	ENSP00000498896.1:n.*2167G>T
ENST00000366578.5:c.*77G>T	ENSP00000355537.4:n.*77G>T
ENST00000542672.5:c.*77G>T	ENSP00000443495.1:n.*77G>T
ENST00000546208.5:c.*77G>T	ENSP00000438384.2:n.*77G>T
NM_001103.3:c.*77G>T	NP_001094.1:n.*77G>T
NM_001278343.1:c.*77G>T	NP_001265272.1:n.*77G>T
NM_001278344.1:c.*77G>T	NP_001265273.1:n.*77G>T
NM_001278343.2:c.*77G>T	NP_001265272.1:n.*77G>T
NM_001103.4:c.*77G>T MANE Select	NP_001094.1:n.*77G>T
NM_001278344.2:c.*77G>T	NP_001265273.1:n.*77G>T