Canonical Allele Identifier: CA295847

Gene: ACTG2

Linked Data

• ClinVar Variation Id: 180620
• ClinVar RCV Id: RCV000157596
• dbSNP Id: rs730880256
• COSMIC: COSM331333
• MyVariant Identifiers: chr2:g.74136258G>T (hg19) ; chr2:g.73909131G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73909131G>T , CM000664.2:g.73909131G>T	GRCh38
NC_000002.11:g.74136258G>T , CM000664.1:g.74136258G>T	GRCh37
NC_000002.10:g.73989766G>T	NCBI36
NG_034140.1:g.21166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345517.8:c.443G>T MANE Select	ENSP00000295137.3:p.Arg148Leu
ENST00000345517.7:c.443G>T	ENSP00000295137.3:p.Arg148Leu
ENST00000409624.1:c.443G>T	ENSP00000386857.1:p.Arg148Leu
ENST00000409731.7:c.314G>T	ENSP00000386929.3:p.Arg105Leu
ENST00000429756.5:c.*198G>T	ENSP00000392894.1:n.*198G>T
ENST00000438902.6:c.*508G>T	ENSP00000410706.2:n.*508G>T
NM_001199893.1:c.314G>T	NP_001186822.1:p.Arg105Leu
NM_001615.3:c.443G>T	NP_001606.1:p.Arg148Leu
NM_001199893.2:c.314G>T	NP_001186822.1:p.Arg105Leu
NM_001615.4:c.443G>T MANE Select	NP_001606.1:p.Arg148Leu