Canonical Allele Identifier: CA347304906

Gene: ACTG2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73916746C>T , CM000664.2:g.73916746C>T	GRCh38
NC_000002.11:g.74143873C>T , CM000664.1:g.74143873C>T	GRCh37
NC_000002.10:g.73997381C>T	NCBI36
NG_034140.1:g.28781C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001615.4:c.968C>T MANE Select	NP_001606.1:p.Pro323Leu
ENST00000345517.8:c.968C>T MANE Select	ENSP00000295137.3:p.Pro323Leu
NM_001199893.1:c.839C>T	NP_001186822.1:p.Pro280Leu
NM_001199893.2:c.839C>T	NP_001186822.1:p.Pro280Leu
NM_001615.3:c.968C>T	NP_001606.1:p.Pro323Leu
ENST00000345517.7:c.968C>T	ENSP00000295137.3:p.Pro323Leu
ENST00000409624.1:c.968C>T	ENSP00000386857.1:p.Pro323Leu
ENST00000409731.7:c.839C>T	ENSP00000386929.3:p.Pro280Leu
ENST00000438902.6:c.*1033C>T	ENSP00000410706.2:n.*1033C>T