Canonical Allele Identifier: CA345384220

Gene: ACTN2

Linked Data

• dbSNP Id: rs1057460296
• gnomAD v2: 1-236911067-G-A
• gnomAD v4: 1-236747767-G-A
• MyVariant Identifiers: chr1:g.236911067G>A (hg19) ; chr1:g.236747767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747767G>A , CM000663.2:g.236747767G>A	GRCh38
NC_000001.10:g.236911067G>A , CM000663.1:g.236911067G>A	GRCh37
NC_000001.9:g.234977690G>A	NCBI36
NG_009081.1:g.66298G>A
NG_009081.2:g.88627G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1507G>A	ENSP00000443495.1:p.Ala503Thr
ENST00000492634.7:n.1437G>A
ENST00000682015.1:c.1414G>A	ENSP00000506961.1:p.Ala472Thr
ENST00000682692.1:n.1254G>A
ENST00000682966.1:n.7148G>A
ENST00000683111.1:c.*793G>A	ENSP00000507913.1:n.*793G>A
ENST00000683322.1:n.2859G>A
ENST00000684050.1:n.4145G>A
ENST00000684286.1:n.3062G>A
ENST00000684502.1:n.1456G>A
ENST00000366578.6:c.1507G>A MANE Select	ENSP00000355537.4:p.Ala503Thr
ENST00000492634.6:n.1437G>A
ENST00000542672.6:c.1507G>A	ENSP00000443495.1:p.Ala503Thr
ENST00000651091.1:c.1197G>A	ENSP00000498677.1:n.1197G>A
ENST00000651275.1:c.1399G>A	ENSP00000498926.1:p.Ala467Thr
ENST00000651781.1:c.587G>A
ENST00000651786.1:c.*879G>A	ENSP00000498364.1:n.*879G>A
ENST00000652096.1:c.*912G>A	ENSP00000498896.1:n.*912G>A
ENST00000366578.5:c.1507G>A	ENSP00000355537.4:p.Ala503Thr
ENST00000492101.1:n.68G>A
ENST00000542672.5:c.1507G>A	ENSP00000443495.1:p.Ala503Thr
ENST00000546208.5:c.883G>A	ENSP00000438384.2:p.Ala295Thr
NM_001103.3:c.1507G>A	NP_001094.1:p.Ala503Thr
NM_001278343.1:c.1507G>A	NP_001265272.1:p.Ala503Thr
NM_001278344.1:c.883G>A	NP_001265273.1:p.Ala295Thr
NM_001278343.2:c.1507G>A	NP_001265272.1:p.Ala503Thr
NM_001103.4:c.1507G>A MANE Select	NP_001094.1:p.Ala503Thr
NM_001278344.2:c.883G>A	NP_001265273.1:p.Ala295Thr