Canonical Allele Identifier: CA423810067

Gene: ACTN2

Linked Data

• dbSNP Id: rs1404357099
• gnomAD v2: 1-236917357-G-A
• MyVariant Identifiers: chr1:g.236917357G>A (hg19) ; chr1:g.236754057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754057G>A , CM000663.2:g.236754057G>A	GRCh38
NC_000001.10:g.236917357G>A , CM000663.1:g.236917357G>A	GRCh37
NC_000001.9:g.234983980G>A	NCBI36
NG_009081.1:g.72588G>A
NG_009081.2:g.94917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1950G>A	ENSP00000443495.1:p.Gly650=
ENST00000461367.2:n.246G>A
ENST00000492634.7:n.1880G>A
ENST00000682015.1:c.1857G>A	ENSP00000506961.1:p.Gly619=
ENST00000682692.1:n.3045G>A
ENST00000682966.1:n.7591G>A
ENST00000683111.1:c.*1236G>A	ENSP00000507913.1:n.*1236G>A
ENST00000683322.1:n.3302G>A
ENST00000684050.1:n.4588G>A
ENST00000684286.1:n.3505G>A
ENST00000684502.1:n.3247G>A
ENST00000684763.1:n.565G>A
ENST00000366578.6:c.1950G>A MANE Select	ENSP00000355537.4:p.Gly650=
ENST00000492634.6:n.1880G>A
ENST00000542672.6:c.1950G>A	ENSP00000443495.1:p.Gly650=
ENST00000651091.1:c.1640G>A	ENSP00000498677.1:n.1640G>A
ENST00000651275.1:c.1842G>A	ENSP00000498926.1:p.Gly614=
ENST00000651781.1:c.1030G>A
ENST00000651786.1:c.*1322G>A	ENSP00000498364.1:n.*1322G>A
ENST00000652096.1:c.*1355G>A	ENSP00000498896.1:n.*1355G>A
ENST00000366578.5:c.1950G>A	ENSP00000355537.4:p.Gly650=
ENST00000461367.1:n.159G>A
ENST00000542672.5:c.1950G>A	ENSP00000443495.1:p.Gly650=
ENST00000546208.5:c.1326G>A	ENSP00000438384.2:p.Gly442=
NM_001103.3:c.1950G>A	NP_001094.1:p.Gly650=
NM_001278343.1:c.1950G>A	NP_001265272.1:p.Gly650=
NM_001278344.1:c.1326G>A	NP_001265273.1:p.Gly442=
NM_001278343.2:c.1950G>A	NP_001265272.1:p.Gly650=
NM_001103.4:c.1950G>A MANE Select	NP_001094.1:p.Gly650=
NM_001278344.2:c.1326G>A	NP_001265273.1:p.Gly442=