Canonical Allele Identifier: CA345392682

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925896C>G (hg19) ; chr1:g.236762596C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762596C>G , CM000663.2:g.236762596C>G	GRCh38
NC_000001.10:g.236925896C>G , CM000663.1:g.236925896C>G	GRCh37
NC_000001.9:g.234992519C>G	NCBI36
NG_009081.1:g.81127C>G
NG_009081.2:g.103456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2662C>G	ENSP00000443495.1:p.Leu888Val
ENST00000461367.2:n.958C>G
ENST00000492634.7:n.2592C>G
ENST00000682015.1:c.2569C>G	ENSP00000506961.1:p.Leu857Val
ENST00000682490.1:n.580C>G
ENST00000682692.1:n.3757C>G
ENST00000682966.1:n.8303C>G
ENST00000683111.1:c.*1948C>G	ENSP00000507913.1:n.*1948C>G
ENST00000683322.1:n.4014C>G
ENST00000683805.1:n.1453C>G
ENST00000684050.1:n.5300C>G
ENST00000684122.1:n.2096C>G
ENST00000684286.1:n.4217C>G
ENST00000684502.1:n.3959C>G
ENST00000684763.1:n.1277C>G
ENST00000366578.6:c.2662C>G MANE Select	ENSP00000355537.4:p.Leu888Val
ENST00000492634.6:n.2592C>G
ENST00000542672.6:c.2662C>G	ENSP00000443495.1:p.Leu888Val
ENST00000651091.1:c.2352C>G	ENSP00000498677.1:n.2352C>G
ENST00000651275.1:c.2554C>G	ENSP00000498926.1:p.Leu852Val
ENST00000651781.1:c.1742C>G
ENST00000651786.1:c.*2034C>G	ENSP00000498364.1:n.*2034C>G
ENST00000652096.1:c.*2067C>G	ENSP00000498896.1:n.*2067C>G
ENST00000366578.5:c.2662C>G	ENSP00000355537.4:p.Leu888Val
ENST00000542672.5:c.2662C>G	ENSP00000443495.1:p.Leu888Val
ENST00000546208.5:c.2038C>G	ENSP00000438384.2:p.Leu680Val
NM_001103.3:c.2662C>G	NP_001094.1:p.Leu888Val
NM_001278343.1:c.2662C>G	NP_001265272.1:p.Leu888Val
NM_001278344.1:c.2038C>G	NP_001265273.1:p.Leu680Val
NM_001278343.2:c.2662C>G	NP_001265272.1:p.Leu888Val
NM_001103.4:c.2662C>G MANE Select	NP_001094.1:p.Leu888Val
NM_001278344.2:c.2038C>G	NP_001265273.1:p.Leu680Val