Canonical Allele Identifier: CA426799012

Gene: ACTG2

Linked Data

• dbSNP Id: rs764306389
• gnomAD v3: 2-73914849-C-G
• gnomAD v4: 2-73914849-C-G
• MyVariant Identifiers: chr2:g.74141976C>G (hg19) ; chr2:g.73914849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73914849C>G , CM000664.2:g.73914849C>G	GRCh38
NC_000002.11:g.74141976C>G , CM000664.1:g.74141976C>G	GRCh37
NC_000002.10:g.73995484C>G	NCBI36
NG_034140.1:g.26884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345517.8:c.783C>G MANE Select	ENSP00000295137.3:p.Thr261=
ENST00000345517.7:c.783C>G	ENSP00000295137.3:p.Thr261=
ENST00000409624.1:c.783C>G	ENSP00000386857.1:p.Thr261=
ENST00000409731.7:c.654C>G	ENSP00000386929.3:p.Thr218=
ENST00000438902.6:c.*848C>G	ENSP00000410706.2:n.*848C>G
NM_001199893.1:c.654C>G	NP_001186822.1:p.Thr218=
NM_001615.3:c.783C>G	NP_001606.1:p.Thr261=
NM_001199893.2:c.654C>G	NP_001186822.1:p.Thr218=
NM_001615.4:c.783C>G MANE Select	NP_001606.1:p.Thr261=