Canonical Allele Identifier: CA332118

Gene: ACTG2

Linked Data

• ClinVar Variation Id: 132799
• ClinVar RCV Id: RCV000119268 ; RCV000493883 ; RCV001535395 ; RCV004542869
• dbSNP Id: rs587777385
• MyVariant Identifiers: chr2:g.74128556C>T (hg19) ; chr2:g.73901429C>T (hg38)
• PubMed: PMID:24676022

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73901429C>T , CM000664.2:g.73901429C>T	GRCh38
NC_000002.11:g.74128556C>T , CM000664.1:g.74128556C>T	GRCh37
NC_000002.10:g.73982064C>T	NCBI36
NG_034140.1:g.13464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345517.8:c.118C>T MANE Select	ENSP00000295137.3:p.Arg40Cys
ENST00000345517.7:c.118C>T	ENSP00000295137.3:p.Arg40Cys
ENST00000409624.1:c.118C>T	ENSP00000386857.1:p.Arg40Cys
ENST00000409731.7:c.118C>T	ENSP00000386929.3:p.Arg40Cys
ENST00000409918.5:c.118C>T	ENSP00000387182.1:p.Arg40Cys
ENST00000429756.5:c.118C>T	ENSP00000392894.1:p.Arg40Cys
ENST00000438902.6:c.118C>T	ENSP00000410706.2:p.Arg40Cys
ENST00000442912.5:c.118C>T	ENSP00000410020.1:p.Arg40Cys
ENST00000468543.5:n.198C>T
ENST00000473016.1:n.255C>T
NM_001199893.1:c.118C>T	NP_001186822.1:p.Arg40Cys
NM_001615.3:c.118C>T	NP_001606.1:p.Arg40Cys
NM_001199893.2:c.118C>T	NP_001186822.1:p.Arg40Cys
NM_001615.4:c.118C>T MANE Select	NP_001606.1:p.Arg40Cys