Canonical Allele Identifier: CA345373459

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882200G>C (hg19) ; chr1:g.236718900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718900G>C , CM000663.2:g.236718900G>C	GRCh38
NC_000001.10:g.236882200G>C , CM000663.1:g.236882200G>C	GRCh37
NC_000001.9:g.234948823G>C	NCBI36
NG_009081.1:g.37431G>C
NG_009081.2:g.59760G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.248G>C	ENSP00000443495.1:p.Arg83Thr
ENST00000492634.7:n.343G>C
ENST00000682015.1:c.248G>C	ENSP00000506961.1:p.Arg83Thr
ENST00000682692.1:n.248G>C
ENST00000682966.1:n.247G>C
ENST00000683075.1:n.187G>C
ENST00000683111.1:c.191G>C	ENSP00000507913.1:p.Arg64Thr
ENST00000684050.1:n.283G>C
ENST00000684286.1:n.316G>C
ENST00000684502.1:n.283G>C
ENST00000366578.6:c.248G>C MANE Select	ENSP00000355537.4:p.Arg83Thr
ENST00000492634.6:n.343G>C
ENST00000542672.6:c.248G>C	ENSP00000443495.1:p.Arg83Thr
ENST00000651091.1:c.191G>C	ENSP00000498677.1:p.Arg64Thr
ENST00000651187.1:c.32G>C	ENSP00000498348.1:p.Arg11Thr
ENST00000651275.1:c.233G>C	ENSP00000498926.1:p.Arg78Thr
ENST00000651786.1:c.248G>C	ENSP00000498364.1:p.Arg83Thr
ENST00000652096.1:c.248G>C	ENSP00000498896.1:p.Arg83Thr
ENST00000366578.5:c.248G>C	ENSP00000355537.4:p.Arg83Thr
ENST00000492634.5:n.395G>C
ENST00000542672.5:c.248G>C	ENSP00000443495.1:p.Arg83Thr
ENST00000546208.5:c.-574G>C	ENSP00000438384.2:n.-574G>C
NM_001103.3:c.248G>C	NP_001094.1:p.Arg83Thr
NM_001278343.1:c.248G>C	NP_001265272.1:p.Arg83Thr
NM_001278344.1:c.-574G>C	NP_001265273.1:n.-574G>C
NM_001278343.2:c.248G>C	NP_001265272.1:p.Arg83Thr
NM_001103.4:c.248G>C MANE Select	NP_001094.1:p.Arg83Thr
NM_001278344.2:c.-574G>C	NP_001265273.1:n.-574G>C