Canonical Allele Identifier: CA345392493

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925857G>C (hg19) ; chr1:g.236762557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762557G>C , CM000663.2:g.236762557G>C	GRCh38
NC_000001.10:g.236925857G>C , CM000663.1:g.236925857G>C	GRCh37
NC_000001.9:g.234992480G>C	NCBI36
NG_009081.1:g.81088G>C
NG_009081.2:g.103417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2623G>C	ENSP00000443495.1:p.Val875Leu
ENST00000461367.2:n.919G>C
ENST00000492634.7:n.2553G>C
ENST00000682015.1:c.2530G>C	ENSP00000506961.1:p.Val844Leu
ENST00000682490.1:n.541G>C
ENST00000682692.1:n.3718G>C
ENST00000682966.1:n.8264G>C
ENST00000683111.1:c.*1909G>C	ENSP00000507913.1:n.*1909G>C
ENST00000683322.1:n.3975G>C
ENST00000683805.1:n.1414G>C
ENST00000684050.1:n.5261G>C
ENST00000684122.1:n.2057G>C
ENST00000684286.1:n.4178G>C
ENST00000684502.1:n.3920G>C
ENST00000684763.1:n.1238G>C
ENST00000366578.6:c.2623G>C MANE Select	ENSP00000355537.4:p.Val875Leu
ENST00000492634.6:n.2553G>C
ENST00000542672.6:c.2623G>C	ENSP00000443495.1:p.Val875Leu
ENST00000651091.1:c.2313G>C	ENSP00000498677.1:n.2313G>C
ENST00000651275.1:c.2515G>C	ENSP00000498926.1:p.Val839Leu
ENST00000651781.1:c.1703G>C
ENST00000651786.1:c.*1995G>C	ENSP00000498364.1:n.*1995G>C
ENST00000652096.1:c.*2028G>C	ENSP00000498896.1:n.*2028G>C
ENST00000366578.5:c.2623G>C	ENSP00000355537.4:p.Val875Leu
ENST00000461367.1:n.832G>C
ENST00000542672.5:c.2623G>C	ENSP00000443495.1:p.Val875Leu
ENST00000546208.5:c.1999G>C	ENSP00000438384.2:p.Val667Leu
NM_001103.3:c.2623G>C	NP_001094.1:p.Val875Leu
NM_001278343.1:c.2623G>C	NP_001265272.1:p.Val875Leu
NM_001278344.1:c.1999G>C	NP_001265273.1:p.Val667Leu
NM_001278343.2:c.2623G>C	NP_001265272.1:p.Val875Leu
NM_001103.4:c.2623G>C MANE Select	NP_001094.1:p.Val875Leu
NM_001278344.2:c.1999G>C	NP_001265273.1:p.Val667Leu