Canonical Allele Identifier: CA345392048

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 570491
• ClinVar RCV Id: RCV000691352
• dbSNP Id: rs1558252775
• gnomAD v4: 1-236762464-T-C
• MyVariant Identifiers: chr1:g.236925764T>C (hg19) ; chr1:g.236762464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762464T>C , CM000663.2:g.236762464T>C	GRCh38
NC_000001.10:g.236925764T>C , CM000663.1:g.236925764T>C	GRCh37
NC_000001.9:g.234992387T>C	NCBI36
NG_009081.1:g.80995T>C
NG_009081.2:g.103324T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2530T>C	ENSP00000443495.1:p.Tyr844His
ENST00000461367.2:n.826T>C
ENST00000492634.7:n.2460T>C
ENST00000682015.1:c.2437T>C	ENSP00000506961.1:p.Tyr813His
ENST00000682490.1:n.448T>C
ENST00000682692.1:n.3625T>C
ENST00000682966.1:n.8171T>C
ENST00000683111.1:c.*1816T>C	ENSP00000507913.1:n.*1816T>C
ENST00000683322.1:n.3882T>C
ENST00000683805.1:n.1321T>C
ENST00000684050.1:n.5168T>C
ENST00000684122.1:n.1964T>C
ENST00000684286.1:n.4085T>C
ENST00000684502.1:n.3827T>C
ENST00000684763.1:n.1145T>C
ENST00000366578.6:c.2530T>C MANE Select	ENSP00000355537.4:p.Tyr844His
ENST00000492634.6:n.2460T>C
ENST00000542672.6:c.2530T>C	ENSP00000443495.1:p.Tyr844His
ENST00000651091.1:c.2220T>C	ENSP00000498677.1:n.2220T>C
ENST00000651275.1:c.2422T>C	ENSP00000498926.1:p.Tyr808His
ENST00000651781.1:c.1610T>C
ENST00000651786.1:c.*1902T>C	ENSP00000498364.1:n.*1902T>C
ENST00000652096.1:c.*1935T>C	ENSP00000498896.1:n.*1935T>C
ENST00000366578.5:c.2530T>C	ENSP00000355537.4:p.Tyr844His
ENST00000461367.1:n.739T>C
ENST00000542672.5:c.2530T>C	ENSP00000443495.1:p.Tyr844His
ENST00000546208.5:c.1906T>C	ENSP00000438384.2:p.Tyr636His
NM_001103.3:c.2530T>C	NP_001094.1:p.Tyr844His
NM_001278343.1:c.2530T>C	NP_001265272.1:p.Tyr844His
NM_001278344.1:c.1906T>C	NP_001265273.1:p.Tyr636His
NM_001278343.2:c.2530T>C	NP_001265272.1:p.Tyr844His
NM_001103.4:c.2530T>C MANE Select	NP_001094.1:p.Tyr844His
NM_001278344.2:c.1906T>C	NP_001265273.1:p.Tyr636His