Canonical Allele Identifier: CA345388661

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920802G>C (hg19) ; chr1:g.236757502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757502G>C , CM000663.2:g.236757502G>C	GRCh38
NC_000001.10:g.236920802G>C , CM000663.1:g.236920802G>C	GRCh37
NC_000001.9:g.234987425G>C	NCBI36
NG_009081.1:g.76033G>C
NG_009081.2:g.98362G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2171G>C	ENSP00000443495.1:p.Trp724Ser
ENST00000461367.2:n.467G>C
ENST00000492634.7:n.2101G>C
ENST00000682015.1:c.2078G>C	ENSP00000506961.1:p.Trp693Ser
ENST00000682490.1:n.89G>C
ENST00000682692.1:n.3266G>C
ENST00000682966.1:n.7812G>C
ENST00000683111.1:c.*1457G>C	ENSP00000507913.1:n.*1457G>C
ENST00000683322.1:n.3523G>C
ENST00000683805.1:n.962G>C
ENST00000684050.1:n.4809G>C
ENST00000684122.1:n.318G>C
ENST00000684286.1:n.3726G>C
ENST00000684502.1:n.3468G>C
ENST00000684763.1:n.786G>C
ENST00000366578.6:c.2171G>C MANE Select	ENSP00000355537.4:p.Trp724Ser
ENST00000492634.6:n.2101G>C
ENST00000542672.6:c.2171G>C	ENSP00000443495.1:p.Trp724Ser
ENST00000651091.1:c.1861G>C	ENSP00000498677.1:n.1861G>C
ENST00000651275.1:c.2063G>C	ENSP00000498926.1:p.Trp688Ser
ENST00000651781.1:c.1251G>C
ENST00000651786.1:c.*1543G>C	ENSP00000498364.1:n.*1543G>C
ENST00000652096.1:c.*1576G>C	ENSP00000498896.1:n.*1576G>C
ENST00000366578.5:c.2171G>C	ENSP00000355537.4:p.Trp724Ser
ENST00000461367.1:n.380G>C
ENST00000542672.5:c.2171G>C	ENSP00000443495.1:p.Trp724Ser
ENST00000546208.5:c.1547G>C	ENSP00000438384.2:p.Trp516Ser
NM_001103.3:c.2171G>C	NP_001094.1:p.Trp724Ser
NM_001278343.1:c.2171G>C	NP_001265272.1:p.Trp724Ser
NM_001278344.1:c.1547G>C	NP_001265273.1:p.Trp516Ser
NM_001278343.2:c.2171G>C	NP_001265272.1:p.Trp724Ser
NM_001103.4:c.2171G>C MANE Select	NP_001094.1:p.Trp724Ser
NM_001278344.2:c.1547G>C	NP_001265273.1:p.Trp516Ser