Canonical Allele Identifier: CA345387781

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236755195-G-A
• MyVariant Identifiers: chr1:g.236918495G>A (hg19) ; chr1:g.236755195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755195G>A , CM000663.2:g.236755195G>A	GRCh38
NC_000001.10:g.236918495G>A , CM000663.1:g.236918495G>A	GRCh37
NC_000001.9:g.234985118G>A	NCBI36
NG_009081.1:g.73726G>A
NG_009081.2:g.96055G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2151G>A	ENSP00000443495.1:p.Met717Ile
ENST00000461367.2:n.447G>A
ENST00000492634.7:n.2081G>A
ENST00000682015.1:c.2058G>A	ENSP00000506961.1:p.Met686Ile
ENST00000682692.1:n.3246G>A
ENST00000682966.1:n.7792G>A
ENST00000683111.1:c.*1437G>A	ENSP00000507913.1:n.*1437G>A
ENST00000683322.1:n.3503G>A
ENST00000683805.1:n.942G>A
ENST00000684050.1:n.4789G>A
ENST00000684122.1:n.298G>A
ENST00000684286.1:n.3706G>A
ENST00000684502.1:n.3448G>A
ENST00000684763.1:n.766G>A
ENST00000366578.6:c.2151G>A MANE Select	ENSP00000355537.4:p.Met717Ile
ENST00000492634.6:n.2081G>A
ENST00000542672.6:c.2151G>A	ENSP00000443495.1:p.Met717Ile
ENST00000651091.1:c.1841G>A	ENSP00000498677.1:n.1841G>A
ENST00000651275.1:c.2043G>A	ENSP00000498926.1:p.Met681Ile
ENST00000651781.1:c.1231G>A
ENST00000651786.1:c.*1523G>A	ENSP00000498364.1:n.*1523G>A
ENST00000652096.1:c.*1556G>A	ENSP00000498896.1:n.*1556G>A
ENST00000366578.5:c.2151G>A	ENSP00000355537.4:p.Met717Ile
ENST00000461367.1:n.360G>A
ENST00000542672.5:c.2151G>A	ENSP00000443495.1:p.Met717Ile
ENST00000546208.5:c.1527G>A	ENSP00000438384.2:p.Met509Ile
NM_001103.3:c.2151G>A	NP_001094.1:p.Met717Ile
NM_001278343.1:c.2151G>A	NP_001265272.1:p.Met717Ile
NM_001278344.1:c.1527G>A	NP_001265273.1:p.Met509Ile
NM_001278343.2:c.2151G>A	NP_001265272.1:p.Met717Ile
NM_001103.4:c.2151G>A MANE Select	NP_001094.1:p.Met717Ile
NM_001278344.2:c.1527G>A	NP_001265273.1:p.Met509Ile