Canonical Allele Identifier: CA345392124

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925786G>C (hg19) ; chr1:g.236762486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762486G>C , CM000663.2:g.236762486G>C	GRCh38
NC_000001.10:g.236925786G>C , CM000663.1:g.236925786G>C	GRCh37
NC_000001.9:g.234992409G>C	NCBI36
NG_009081.1:g.81017G>C
NG_009081.2:g.103346G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2552G>C	ENSP00000443495.1:p.Arg851Pro
ENST00000461367.2:n.848G>C
ENST00000492634.7:n.2482G>C
ENST00000682015.1:c.2459G>C	ENSP00000506961.1:p.Arg820Pro
ENST00000682490.1:n.470G>C
ENST00000682692.1:n.3647G>C
ENST00000682966.1:n.8193G>C
ENST00000683111.1:c.*1838G>C	ENSP00000507913.1:n.*1838G>C
ENST00000683322.1:n.3904G>C
ENST00000683805.1:n.1343G>C
ENST00000684050.1:n.5190G>C
ENST00000684122.1:n.1986G>C
ENST00000684286.1:n.4107G>C
ENST00000684502.1:n.3849G>C
ENST00000684763.1:n.1167G>C
ENST00000366578.6:c.2552G>C MANE Select	ENSP00000355537.4:p.Arg851Pro
ENST00000492634.6:n.2482G>C
ENST00000542672.6:c.2552G>C	ENSP00000443495.1:p.Arg851Pro
ENST00000651091.1:c.2242G>C	ENSP00000498677.1:n.2242G>C
ENST00000651275.1:c.2444G>C	ENSP00000498926.1:p.Arg815Pro
ENST00000651781.1:c.1632G>C
ENST00000651786.1:c.*1924G>C	ENSP00000498364.1:n.*1924G>C
ENST00000652096.1:c.*1957G>C	ENSP00000498896.1:n.*1957G>C
ENST00000366578.5:c.2552G>C	ENSP00000355537.4:p.Arg851Pro
ENST00000461367.1:n.761G>C
ENST00000542672.5:c.2552G>C	ENSP00000443495.1:p.Arg851Pro
ENST00000546208.5:c.1928G>C	ENSP00000438384.2:p.Arg643Pro
NM_001103.3:c.2552G>C	NP_001094.1:p.Arg851Pro
NM_001278343.1:c.2552G>C	NP_001265272.1:p.Arg851Pro
NM_001278344.1:c.1928G>C	NP_001265273.1:p.Arg643Pro
NM_001278343.2:c.2552G>C	NP_001265272.1:p.Arg851Pro
NM_001103.4:c.2552G>C MANE Select	NP_001094.1:p.Arg851Pro
NM_001278344.2:c.1928G>C	NP_001265273.1:p.Arg643Pro