Canonical Allele Identifier: CA423810031

Gene: ACTN2

Linked Data

• dbSNP Id: rs1256171800
• gnomAD v2: 1-236917333-T-C
• gnomAD v4: 1-236754033-T-C
• MyVariant Identifiers: chr1:g.236917333T>C (hg19) ; chr1:g.236754033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754033T>C , CM000663.2:g.236754033T>C	GRCh38
NC_000001.10:g.236917333T>C , CM000663.1:g.236917333T>C	GRCh37
NC_000001.9:g.234983956T>C	NCBI36
NG_009081.1:g.72564T>C
NG_009081.2:g.94893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1926T>C	ENSP00000443495.1:p.Phe642=
ENST00000461367.2:n.222T>C
ENST00000492634.7:n.1856T>C
ENST00000682015.1:c.1833T>C	ENSP00000506961.1:p.Phe611=
ENST00000682692.1:n.3021T>C
ENST00000682966.1:n.7567T>C
ENST00000683111.1:c.*1212T>C	ENSP00000507913.1:n.*1212T>C
ENST00000683322.1:n.3278T>C
ENST00000684050.1:n.4564T>C
ENST00000684286.1:n.3481T>C
ENST00000684502.1:n.3223T>C
ENST00000684763.1:n.541T>C
ENST00000366578.6:c.1926T>C MANE Select	ENSP00000355537.4:p.Phe642=
ENST00000492634.6:n.1856T>C
ENST00000542672.6:c.1926T>C	ENSP00000443495.1:p.Phe642=
ENST00000651091.1:c.1616T>C	ENSP00000498677.1:n.1616T>C
ENST00000651275.1:c.1818T>C	ENSP00000498926.1:p.Phe606=
ENST00000651781.1:c.1006T>C
ENST00000651786.1:c.*1298T>C	ENSP00000498364.1:n.*1298T>C
ENST00000652096.1:c.*1331T>C	ENSP00000498896.1:n.*1331T>C
ENST00000366578.5:c.1926T>C	ENSP00000355537.4:p.Phe642=
ENST00000461367.1:n.135T>C
ENST00000542672.5:c.1926T>C	ENSP00000443495.1:p.Phe642=
ENST00000546208.5:c.1302T>C	ENSP00000438384.2:p.Phe434=
NM_001103.3:c.1926T>C	NP_001094.1:p.Phe642=
NM_001278343.1:c.1926T>C	NP_001265272.1:p.Phe642=
NM_001278344.1:c.1302T>C	NP_001265273.1:p.Phe434=
NM_001278343.2:c.1926T>C	NP_001265272.1:p.Phe642=
NM_001103.4:c.1926T>C MANE Select	NP_001094.1:p.Phe642=
NM_001278344.2:c.1302T>C	NP_001265273.1:p.Phe434=