Canonical Allele Identifier: CA345388723

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920819A>C (hg19) ; chr1:g.236757519A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757519A>C , CM000663.2:g.236757519A>C	GRCh38
NC_000001.10:g.236920819A>C , CM000663.1:g.236920819A>C	GRCh37
NC_000001.9:g.234987442A>C	NCBI36
NG_009081.1:g.76050A>C
NG_009081.2:g.98379A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2188A>C	ENSP00000443495.1:p.Thr730Pro
ENST00000461367.2:n.484A>C
ENST00000492634.7:n.2118A>C
ENST00000682015.1:c.2095A>C	ENSP00000506961.1:p.Thr699Pro
ENST00000682490.1:n.106A>C
ENST00000682692.1:n.3283A>C
ENST00000682966.1:n.7829A>C
ENST00000683111.1:c.*1474A>C	ENSP00000507913.1:n.*1474A>C
ENST00000683322.1:n.3540A>C
ENST00000683805.1:n.979A>C
ENST00000684050.1:n.4826A>C
ENST00000684122.1:n.335A>C
ENST00000684286.1:n.3743A>C
ENST00000684502.1:n.3485A>C
ENST00000684763.1:n.803A>C
ENST00000366578.6:c.2188A>C MANE Select	ENSP00000355537.4:p.Thr730Pro
ENST00000492634.6:n.2118A>C
ENST00000542672.6:c.2188A>C	ENSP00000443495.1:p.Thr730Pro
ENST00000651091.1:c.1878A>C	ENSP00000498677.1:n.1878A>C
ENST00000651275.1:c.2080A>C	ENSP00000498926.1:p.Thr694Pro
ENST00000651781.1:c.1268A>C
ENST00000651786.1:c.*1560A>C	ENSP00000498364.1:n.*1560A>C
ENST00000652096.1:c.*1593A>C	ENSP00000498896.1:n.*1593A>C
ENST00000366578.5:c.2188A>C	ENSP00000355537.4:p.Thr730Pro
ENST00000461367.1:n.397A>C
ENST00000542672.5:c.2188A>C	ENSP00000443495.1:p.Thr730Pro
ENST00000546208.5:c.1564A>C	ENSP00000438384.2:p.Thr522Pro
NM_001103.3:c.2188A>C	NP_001094.1:p.Thr730Pro
NM_001278343.1:c.2188A>C	NP_001265272.1:p.Thr730Pro
NM_001278344.1:c.1564A>C	NP_001265273.1:p.Thr522Pro
NM_001278343.2:c.2188A>C	NP_001265272.1:p.Thr730Pro
NM_001103.4:c.2188A>C MANE Select	NP_001094.1:p.Thr730Pro
NM_001278344.2:c.1564A>C	NP_001265273.1:p.Thr522Pro