Canonical Allele Identifier: CA1473519

Gene: ACTN2

Linked Data

• dbSNP Id: rs755943513
• ExAC: 1:236925953 A / G
• gnomAD v2: 1-236925953-A-G
• gnomAD v3: 1-236762653-A-G
• gnomAD v4: 1-236762653-A-G
• MyVariant Identifiers: chr1:g.236925953A>G (hg19) ; chr1:g.236762653A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762653A>G , CM000663.2:g.236762653A>G	GRCh38
NC_000001.10:g.236925953A>G , CM000663.1:g.236925953A>G	GRCh37
NC_000001.9:g.234992576A>G	NCBI36
NG_009081.1:g.81184A>G
NG_009081.2:g.103513A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*34A>G	ENSP00000443495.1:n.*34A>G
ENST00000461367.2:n.1015A>G
ENST00000492634.7:n.2649A>G
ENST00000682015.1:c.*34A>G	ENSP00000506961.1:n.*34A>G
ENST00000682490.1:n.637A>G
ENST00000682692.1:n.3814A>G
ENST00000682966.1:n.8360A>G
ENST00000683111.1:c.*2005A>G	ENSP00000507913.1:n.*2005A>G
ENST00000683322.1:n.4071A>G
ENST00000683805.1:n.1510A>G
ENST00000684050.1:n.5357A>G
ENST00000684122.1:n.2153A>G
ENST00000684286.1:n.4274A>G
ENST00000684502.1:n.4016A>G
ENST00000684763.1:n.1334A>G
ENST00000366578.6:c.*34A>G MANE Select	ENSP00000355537.4:n.*34A>G
ENST00000492634.6:n.2649A>G
ENST00000542672.6:c.*34A>G	ENSP00000443495.1:n.*34A>G
ENST00000651275.1:c.2611A>G	ENSP00000498926.1:n.2611A>G
ENST00000651781.1:c.1799A>G
ENST00000651786.1:c.*2091A>G	ENSP00000498364.1:n.*2091A>G
ENST00000652096.1:c.*2124A>G	ENSP00000498896.1:n.*2124A>G
ENST00000366578.5:c.*34A>G	ENSP00000355537.4:n.*34A>G
ENST00000542672.5:c.*34A>G	ENSP00000443495.1:n.*34A>G
ENST00000546208.5:c.*34A>G	ENSP00000438384.2:n.*34A>G
NM_001103.3:c.*34A>G	NP_001094.1:n.*34A>G
NM_001278343.1:c.*34A>G	NP_001265272.1:n.*34A>G
NM_001278344.1:c.*34A>G	NP_001265273.1:n.*34A>G
NM_001278343.2:c.*34A>G	NP_001265272.1:n.*34A>G
NM_001103.4:c.*34A>G MANE Select	NP_001094.1:n.*34A>G
NM_001278344.2:c.*34A>G	NP_001265273.1:n.*34A>G