Canonical Allele Identifier: CA1718024

Gene: ACTG2

Linked Data

• dbSNP Id: rs758889276
• ExAC: 2:74141967 C / T
• gnomAD v2: 2-74141967-C-T
• gnomAD v4: 2-73914840-C-T
• MyVariant Identifiers: chr2:g.74141967C>T (hg19) ; chr2:g.73914840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73914840C>T , CM000664.2:g.73914840C>T	GRCh38
NC_000002.11:g.74141967C>T , CM000664.1:g.74141967C>T	GRCh37
NC_000002.10:g.73995475C>T	NCBI36
NG_034140.1:g.26875C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000345517.8:c.774C>T MANE Select	ENSP00000295137.3:p.Cys258=
ENST00000345517.7:c.774C>T	ENSP00000295137.3:p.Cys258=
ENST00000409624.1:c.774C>T	ENSP00000386857.1:p.Cys258=
ENST00000409731.7:c.645C>T	ENSP00000386929.3:p.Cys215=
ENST00000438902.6:c.*839C>T	ENSP00000410706.2:n.*839C>T
NM_001199893.1:c.645C>T	NP_001186822.1:p.Cys215=
NM_001615.3:c.774C>T	NP_001606.1:p.Cys258=
NM_001199893.2:c.645C>T	NP_001186822.1:p.Cys215=
NM_001615.4:c.774C>T MANE Select	NP_001606.1:p.Cys258=