Canonical Allele Identifier: CA423807011

Gene: ACTN2

Linked Data

• dbSNP Id: rs1658302897
• gnomAD v3: 1-236719000-C-T
• gnomAD v4: 1-236719000-C-T
• MyVariant Identifiers: chr1:g.236882300C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719000C>T , CM000663.2:g.236719000C>T	GRCh38
NC_000001.10:g.236882300C>T , CM000663.1:g.236882300C>T	GRCh37
NC_000001.9:g.234948923C>T	NCBI36
NG_009081.1:g.37531C>T
NG_009081.2:g.59860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.348C>T	ENSP00000443495.1:p.Ser116=
ENST00000492634.7:n.443C>T
ENST00000494762.2:n.97C>T
ENST00000682015.1:c.348C>T	ENSP00000506961.1:p.Ser116=
ENST00000682692.1:n.348C>T
ENST00000682966.1:n.347C>T
ENST00000683075.1:n.287C>T
ENST00000683111.1:c.291C>T	ENSP00000507913.1:p.Ser97=
ENST00000684050.1:n.383C>T
ENST00000684286.1:n.416C>T
ENST00000684502.1:n.383C>T
ENST00000366578.6:c.348C>T MANE Select	ENSP00000355537.4:p.Ser116=
ENST00000492634.6:n.443C>T
ENST00000542672.6:c.348C>T	ENSP00000443495.1:p.Ser116=
ENST00000651091.1:c.291C>T	ENSP00000498677.1:p.Ser97=
ENST00000651187.1:c.132C>T	ENSP00000498348.1:p.Ser44=
ENST00000651275.1:c.333C>T	ENSP00000498926.1:p.Ser111=
ENST00000651786.1:c.348C>T	ENSP00000498364.1:p.Ser116=
ENST00000652096.1:c.348C>T	ENSP00000498896.1:p.Ser116=
ENST00000366578.5:c.348C>T	ENSP00000355537.4:p.Ser116=
ENST00000492634.5:n.495C>T
ENST00000542672.5:c.348C>T	ENSP00000443495.1:p.Ser116=
ENST00000546208.5:c.-474C>T	ENSP00000438384.2:n.-474C>T
NM_001103.3:c.348C>T	NP_001094.1:p.Ser116=
NM_001278343.1:c.348C>T	NP_001265272.1:p.Ser116=
NM_001278344.1:c.-474C>T	NP_001265273.1:n.-474C>T
NM_001278343.2:c.348C>T	NP_001265272.1:p.Ser116=
NM_001103.4:c.348C>T MANE Select	NP_001094.1:p.Ser116=
NM_001278344.2:c.-474C>T	NP_001265273.1:n.-474C>T