Canonical Allele Identifier: CA345373461

Gene: ACTN2

Linked Data

• dbSNP Id: rs376981679
• gnomAD v2: 1-236882201-G-T
• gnomAD v4: 1-236718901-G-T
• MyVariant Identifiers: chr1:g.236882201G>T (hg19) ; chr1:g.236718901G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718901G>T , CM000663.2:g.236718901G>T	GRCh38
NC_000001.10:g.236882201G>T , CM000663.1:g.236882201G>T	GRCh37
NC_000001.9:g.234948824G>T	NCBI36
NG_009081.1:g.37432G>T
NG_009081.2:g.59761G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.249G>T	ENSP00000443495.1:p.Arg83Ser
ENST00000492634.7:n.344G>T
ENST00000682015.1:c.249G>T	ENSP00000506961.1:p.Arg83Ser
ENST00000682692.1:n.249G>T
ENST00000682966.1:n.248G>T
ENST00000683075.1:n.188G>T
ENST00000683111.1:c.192G>T	ENSP00000507913.1:p.Arg64Ser
ENST00000684050.1:n.284G>T
ENST00000684286.1:n.317G>T
ENST00000684502.1:n.284G>T
ENST00000366578.6:c.249G>T MANE Select	ENSP00000355537.4:p.Arg83Ser
ENST00000492634.6:n.344G>T
ENST00000542672.6:c.249G>T	ENSP00000443495.1:p.Arg83Ser
ENST00000651091.1:c.192G>T	ENSP00000498677.1:p.Arg64Ser
ENST00000651187.1:c.33G>T	ENSP00000498348.1:p.Arg11Ser
ENST00000651275.1:c.234G>T	ENSP00000498926.1:p.Arg78Ser
ENST00000651786.1:c.249G>T	ENSP00000498364.1:p.Arg83Ser
ENST00000652096.1:c.249G>T	ENSP00000498896.1:p.Arg83Ser
ENST00000366578.5:c.249G>T	ENSP00000355537.4:p.Arg83Ser
ENST00000492634.5:n.396G>T
ENST00000542672.5:c.249G>T	ENSP00000443495.1:p.Arg83Ser
ENST00000546208.5:c.-573G>T	ENSP00000438384.2:n.-573G>T
NM_001103.3:c.249G>T	NP_001094.1:p.Arg83Ser
NM_001278343.1:c.249G>T	NP_001265272.1:p.Arg83Ser
NM_001278344.1:c.-573G>T	NP_001265273.1:n.-573G>T
NM_001278343.2:c.249G>T	NP_001265272.1:p.Arg83Ser
NM_001103.4:c.249G>T MANE Select	NP_001094.1:p.Arg83Ser
NM_001278344.2:c.-573G>T	NP_001265273.1:n.-573G>T