Canonical Allele Identifier: CA1473485

Gene: ACTN2

Linked Data

• dbSNP Id: rs766813897
• ExAC: 1:236925762 C / T
• gnomAD v2: 1-236925762-C-T
• gnomAD v4: 1-236762462-C-T
• MyVariant Identifiers: chr1:g.236925762C>T (hg19) ; chr1:g.236762462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762462C>T , CM000663.2:g.236762462C>T	GRCh38
NC_000001.10:g.236925762C>T , CM000663.1:g.236925762C>T	GRCh37
NC_000001.9:g.234992385C>T	NCBI36
NG_009081.1:g.80993C>T
NG_009081.2:g.103322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2528C>T	ENSP00000443495.1:p.Pro843Leu
ENST00000461367.2:n.824C>T
ENST00000492634.7:n.2458C>T
ENST00000682015.1:c.2435C>T	ENSP00000506961.1:p.Pro812Leu
ENST00000682490.1:n.446C>T
ENST00000682692.1:n.3623C>T
ENST00000682966.1:n.8169C>T
ENST00000683111.1:c.*1814C>T	ENSP00000507913.1:n.*1814C>T
ENST00000683322.1:n.3880C>T
ENST00000683805.1:n.1319C>T
ENST00000684050.1:n.5166C>T
ENST00000684122.1:n.1962C>T
ENST00000684286.1:n.4083C>T
ENST00000684502.1:n.3825C>T
ENST00000684763.1:n.1143C>T
ENST00000366578.6:c.2528C>T MANE Select	ENSP00000355537.4:p.Pro843Leu
ENST00000492634.6:n.2458C>T
ENST00000542672.6:c.2528C>T	ENSP00000443495.1:p.Pro843Leu
ENST00000651091.1:c.2218C>T	ENSP00000498677.1:n.2218C>T
ENST00000651275.1:c.2420C>T	ENSP00000498926.1:p.Pro807Leu
ENST00000651781.1:c.1608C>T
ENST00000651786.1:c.*1900C>T	ENSP00000498364.1:n.*1900C>T
ENST00000652096.1:c.*1933C>T	ENSP00000498896.1:n.*1933C>T
ENST00000366578.5:c.2528C>T	ENSP00000355537.4:p.Pro843Leu
ENST00000461367.1:n.737C>T
ENST00000542672.5:c.2528C>T	ENSP00000443495.1:p.Pro843Leu
ENST00000546208.5:c.1904C>T	ENSP00000438384.2:p.Pro635Leu
NM_001103.3:c.2528C>T	NP_001094.1:p.Pro843Leu
NM_001278343.1:c.2528C>T	NP_001265272.1:p.Pro843Leu
NM_001278344.1:c.1904C>T	NP_001265273.1:p.Pro635Leu
NM_001278343.2:c.2528C>T	NP_001265272.1:p.Pro843Leu
NM_001103.4:c.2528C>T MANE Select	NP_001094.1:p.Pro843Leu
NM_001278344.2:c.1904C>T	NP_001265273.1:p.Pro635Leu