Canonical Allele Identifier: CA1473513

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 463208
• ClinVar RCV Id: RCV000534650 ; RCV001563231 ; RCV002431587 ; RCV001099123
• dbSNP Id: rs142646143
• ExAC: 1:236925911 G / A
• gnomAD v2: 1-236925911-G-A
• gnomAD v3: 1-236762611-G-A
• gnomAD v4: 1-236762611-G-A
• COSMIC: COSM3864866
• MyVariant Identifiers: chr1:g.236925911G>A (hg19) ; chr1:g.236762611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762611G>A , CM000663.2:g.236762611G>A	GRCh38
NC_000001.10:g.236925911G>A , CM000663.1:g.236925911G>A	GRCh37
NC_000001.9:g.234992534G>A	NCBI36
NG_009081.1:g.81142G>A
NG_009081.2:g.103471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2677G>A	ENSP00000443495.1:p.Asp893Asn
ENST00000461367.2:n.973G>A
ENST00000492634.7:n.2607G>A
ENST00000682015.1:c.2584G>A	ENSP00000506961.1:p.Asp862Asn
ENST00000682490.1:n.595G>A
ENST00000682692.1:n.3772G>A
ENST00000682966.1:n.8318G>A
ENST00000683111.1:c.*1963G>A	ENSP00000507913.1:n.*1963G>A
ENST00000683322.1:n.4029G>A
ENST00000683805.1:n.1468G>A
ENST00000684050.1:n.5315G>A
ENST00000684122.1:n.2111G>A
ENST00000684286.1:n.4232G>A
ENST00000684502.1:n.3974G>A
ENST00000684763.1:n.1292G>A
ENST00000366578.6:c.2677G>A MANE Select	ENSP00000355537.4:p.Asp893Asn
ENST00000492634.6:n.2607G>A
ENST00000542672.6:c.2677G>A	ENSP00000443495.1:p.Asp893Asn
ENST00000651275.1:c.2569G>A	ENSP00000498926.1:p.Asp857Asn
ENST00000651781.1:c.1757G>A
ENST00000651786.1:c.*2049G>A	ENSP00000498364.1:n.*2049G>A
ENST00000652096.1:c.*2082G>A	ENSP00000498896.1:n.*2082G>A
ENST00000366578.5:c.2677G>A	ENSP00000355537.4:p.Asp893Asn
ENST00000542672.5:c.2677G>A	ENSP00000443495.1:p.Asp893Asn
ENST00000546208.5:c.2053G>A	ENSP00000438384.2:p.Asp685Asn
NM_001103.3:c.2677G>A	NP_001094.1:p.Asp893Asn
NM_001278343.1:c.2677G>A	NP_001265272.1:p.Asp893Asn
NM_001278344.1:c.2053G>A	NP_001265273.1:p.Asp685Asn
NM_001278343.2:c.2677G>A	NP_001265272.1:p.Asp893Asn
NM_001103.4:c.2677G>A MANE Select	NP_001094.1:p.Asp893Asn
NM_001278344.2:c.2053G>A	NP_001265273.1:p.Asp685Asn