Canonical Allele Identifier: CA345392498

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925858T>C (hg19) ; chr1:g.236762558T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762558T>C , CM000663.2:g.236762558T>C	GRCh38
NC_000001.10:g.236925858T>C , CM000663.1:g.236925858T>C	GRCh37
NC_000001.9:g.234992481T>C	NCBI36
NG_009081.1:g.81089T>C
NG_009081.2:g.103418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2624T>C	ENSP00000443495.1:p.Val875Ala
ENST00000461367.2:n.920T>C
ENST00000492634.7:n.2554T>C
ENST00000682015.1:c.2531T>C	ENSP00000506961.1:p.Val844Ala
ENST00000682490.1:n.542T>C
ENST00000682692.1:n.3719T>C
ENST00000682966.1:n.8265T>C
ENST00000683111.1:c.*1910T>C	ENSP00000507913.1:n.*1910T>C
ENST00000683322.1:n.3976T>C
ENST00000683805.1:n.1415T>C
ENST00000684050.1:n.5262T>C
ENST00000684122.1:n.2058T>C
ENST00000684286.1:n.4179T>C
ENST00000684502.1:n.3921T>C
ENST00000684763.1:n.1239T>C
ENST00000366578.6:c.2624T>C MANE Select	ENSP00000355537.4:p.Val875Ala
ENST00000492634.6:n.2554T>C
ENST00000542672.6:c.2624T>C	ENSP00000443495.1:p.Val875Ala
ENST00000651091.1:c.2314T>C	ENSP00000498677.1:n.2314T>C
ENST00000651275.1:c.2516T>C	ENSP00000498926.1:p.Val839Ala
ENST00000651781.1:c.1704T>C
ENST00000651786.1:c.*1996T>C	ENSP00000498364.1:n.*1996T>C
ENST00000652096.1:c.*2029T>C	ENSP00000498896.1:n.*2029T>C
ENST00000366578.5:c.2624T>C	ENSP00000355537.4:p.Val875Ala
ENST00000461367.1:n.833T>C
ENST00000542672.5:c.2624T>C	ENSP00000443495.1:p.Val875Ala
ENST00000546208.5:c.2000T>C	ENSP00000438384.2:p.Val667Ala
NM_001103.3:c.2624T>C	NP_001094.1:p.Val875Ala
NM_001278343.1:c.2624T>C	NP_001265272.1:p.Val875Ala
NM_001278344.1:c.2000T>C	NP_001265273.1:p.Val667Ala
NM_001278343.2:c.2624T>C	NP_001265272.1:p.Val875Ala
NM_001103.4:c.2624T>C MANE Select	NP_001094.1:p.Val875Ala
NM_001278344.2:c.2000T>C	NP_001265273.1:p.Val667Ala