Canonical Allele Identifier: CA1472762

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 463209
• ClinVar RCV Id: RCV000549699 ; RCV003139762 ; RCV001193478 ; RCV002456101
• dbSNP Id: rs148628141
• ExAC: 1:236882283 G / A
• gnomAD v2: 1-236882283-G-A
• gnomAD v3: 1-236718983-G-A
• gnomAD v4: 1-236718983-G-A
• MyVariant Identifiers: chr1:g.236882283G>A (hg19) ; chr1:g.236718983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718983G>A , CM000663.2:g.236718983G>A	GRCh38
NC_000001.10:g.236882283G>A , CM000663.1:g.236882283G>A	GRCh37
NC_000001.9:g.234948906G>A	NCBI36
NG_009081.1:g.37514G>A
NG_009081.2:g.59843G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.331G>A	ENSP00000443495.1:p.Gly111Arg
ENST00000492634.7:n.426G>A
ENST00000494762.2:n.80G>A
ENST00000682015.1:c.331G>A	ENSP00000506961.1:p.Gly111Arg
ENST00000682692.1:n.331G>A
ENST00000682966.1:n.330G>A
ENST00000683075.1:n.270G>A
ENST00000683111.1:c.274G>A	ENSP00000507913.1:p.Gly92Arg
ENST00000684050.1:n.366G>A
ENST00000684286.1:n.399G>A
ENST00000684502.1:n.366G>A
ENST00000366578.6:c.331G>A MANE Select	ENSP00000355537.4:p.Gly111Arg
ENST00000492634.6:n.426G>A
ENST00000542672.6:c.331G>A	ENSP00000443495.1:p.Gly111Arg
ENST00000651091.1:c.274G>A	ENSP00000498677.1:p.Gly92Arg
ENST00000651187.1:c.115G>A	ENSP00000498348.1:p.Gly39Arg
ENST00000651275.1:c.316G>A	ENSP00000498926.1:p.Gly106Arg
ENST00000651786.1:c.331G>A	ENSP00000498364.1:p.Gly111Arg
ENST00000652096.1:c.331G>A	ENSP00000498896.1:p.Gly111Arg
ENST00000366578.5:c.331G>A	ENSP00000355537.4:p.Gly111Arg
ENST00000492634.5:n.478G>A
ENST00000542672.5:c.331G>A	ENSP00000443495.1:p.Gly111Arg
ENST00000546208.5:c.-491G>A	ENSP00000438384.2:n.-491G>A
NM_001103.3:c.331G>A	NP_001094.1:p.Gly111Arg
NM_001278343.1:c.331G>A	NP_001265272.1:p.Gly111Arg
NM_001278344.1:c.-491G>A	NP_001265273.1:n.-491G>A
NM_001278343.2:c.331G>A	NP_001265272.1:p.Gly111Arg
NM_001103.4:c.331G>A MANE Select	NP_001094.1:p.Gly111Arg
NM_001278344.2:c.-491G>A	NP_001265273.1:n.-491G>A