Canonical Allele Identifier: CA345373657

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882290A>C (hg19) ; chr1:g.236718990A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718990A>C , CM000663.2:g.236718990A>C	GRCh38
NC_000001.10:g.236882290A>C , CM000663.1:g.236882290A>C	GRCh37
NC_000001.9:g.234948913A>C	NCBI36
NG_009081.1:g.37521A>C
NG_009081.2:g.59850A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.338A>C	ENSP00000443495.1:p.Lys113Thr
ENST00000492634.7:n.433A>C
ENST00000494762.2:n.87A>C
ENST00000682015.1:c.338A>C	ENSP00000506961.1:p.Lys113Thr
ENST00000682692.1:n.338A>C
ENST00000682966.1:n.337A>C
ENST00000683075.1:n.277A>C
ENST00000683111.1:c.281A>C	ENSP00000507913.1:p.Lys94Thr
ENST00000684050.1:n.373A>C
ENST00000684286.1:n.406A>C
ENST00000684502.1:n.373A>C
ENST00000366578.6:c.338A>C MANE Select	ENSP00000355537.4:p.Lys113Thr
ENST00000492634.6:n.433A>C
ENST00000542672.6:c.338A>C	ENSP00000443495.1:p.Lys113Thr
ENST00000651091.1:c.281A>C	ENSP00000498677.1:p.Lys94Thr
ENST00000651187.1:c.122A>C	ENSP00000498348.1:p.Lys41Thr
ENST00000651275.1:c.323A>C	ENSP00000498926.1:p.Lys108Thr
ENST00000651786.1:c.338A>C	ENSP00000498364.1:p.Lys113Thr
ENST00000652096.1:c.338A>C	ENSP00000498896.1:p.Lys113Thr
ENST00000366578.5:c.338A>C	ENSP00000355537.4:p.Lys113Thr
ENST00000492634.5:n.485A>C
ENST00000542672.5:c.338A>C	ENSP00000443495.1:p.Lys113Thr
ENST00000546208.5:c.-484A>C	ENSP00000438384.2:n.-484A>C
NM_001103.3:c.338A>C	NP_001094.1:p.Lys113Thr
NM_001278343.1:c.338A>C	NP_001265272.1:p.Lys113Thr
NM_001278344.1:c.-484A>C	NP_001265273.1:n.-484A>C
NM_001278343.2:c.338A>C	NP_001265272.1:p.Lys113Thr
NM_001103.4:c.338A>C MANE Select	NP_001094.1:p.Lys113Thr
NM_001278344.2:c.-484A>C	NP_001265273.1:n.-484A>C