Canonical Allele Identifier: CA345388692

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920808T>C (hg19) ; chr1:g.236757508T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757508T>C , CM000663.2:g.236757508T>C	GRCh38
NC_000001.10:g.236920808T>C , CM000663.1:g.236920808T>C	GRCh37
NC_000001.9:g.234987431T>C	NCBI36
NG_009081.1:g.76039T>C
NG_009081.2:g.98368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2177T>C	ENSP00000443495.1:p.Leu726Pro
ENST00000461367.2:n.473T>C
ENST00000492634.7:n.2107T>C
ENST00000682015.1:c.2084T>C	ENSP00000506961.1:p.Leu695Pro
ENST00000682490.1:n.95T>C
ENST00000682692.1:n.3272T>C
ENST00000682966.1:n.7818T>C
ENST00000683111.1:c.*1463T>C	ENSP00000507913.1:n.*1463T>C
ENST00000683322.1:n.3529T>C
ENST00000683805.1:n.968T>C
ENST00000684050.1:n.4815T>C
ENST00000684122.1:n.324T>C
ENST00000684286.1:n.3732T>C
ENST00000684502.1:n.3474T>C
ENST00000684763.1:n.792T>C
ENST00000366578.6:c.2177T>C MANE Select	ENSP00000355537.4:p.Leu726Pro
ENST00000492634.6:n.2107T>C
ENST00000542672.6:c.2177T>C	ENSP00000443495.1:p.Leu726Pro
ENST00000651091.1:c.1867T>C	ENSP00000498677.1:n.1867T>C
ENST00000651275.1:c.2069T>C	ENSP00000498926.1:p.Leu690Pro
ENST00000651781.1:c.1257T>C
ENST00000651786.1:c.*1549T>C	ENSP00000498364.1:n.*1549T>C
ENST00000652096.1:c.*1582T>C	ENSP00000498896.1:n.*1582T>C
ENST00000366578.5:c.2177T>C	ENSP00000355537.4:p.Leu726Pro
ENST00000461367.1:n.386T>C
ENST00000542672.5:c.2177T>C	ENSP00000443495.1:p.Leu726Pro
ENST00000546208.5:c.1553T>C	ENSP00000438384.2:p.Leu518Pro
NM_001103.3:c.2177T>C	NP_001094.1:p.Leu726Pro
NM_001278343.1:c.2177T>C	NP_001265272.1:p.Leu726Pro
NM_001278344.1:c.1553T>C	NP_001265273.1:p.Leu518Pro
NM_001278343.2:c.2177T>C	NP_001265272.1:p.Leu726Pro
NM_001103.4:c.2177T>C MANE Select	NP_001094.1:p.Leu726Pro
NM_001278344.2:c.1553T>C	NP_001265273.1:p.Leu518Pro