Canonical Allele Identifier: CA345387758

Gene: ACTN2

Linked Data

• dbSNP Id: rs1305089793
• gnomAD v2: 1-236918484-A-T
• gnomAD v3: 1-236755184-A-T
• gnomAD v4: 1-236755184-A-T
• MyVariant Identifiers: chr1:g.236918484A>T (hg19) ; chr1:g.236755184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755184A>T , CM000663.2:g.236755184A>T	GRCh38
NC_000001.10:g.236918484A>T , CM000663.1:g.236918484A>T	GRCh37
NC_000001.9:g.234985107A>T	NCBI36
NG_009081.1:g.73715A>T
NG_009081.2:g.96044A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2140A>T	ENSP00000443495.1:p.Asn714Tyr
ENST00000461367.2:n.436A>T
ENST00000492634.7:n.2070A>T
ENST00000682015.1:c.2047A>T	ENSP00000506961.1:p.Asn683Tyr
ENST00000682692.1:n.3235A>T
ENST00000682966.1:n.7781A>T
ENST00000683111.1:c.*1426A>T	ENSP00000507913.1:n.*1426A>T
ENST00000683322.1:n.3492A>T
ENST00000683805.1:n.931A>T
ENST00000684050.1:n.4778A>T
ENST00000684122.1:n.287A>T
ENST00000684286.1:n.3695A>T
ENST00000684502.1:n.3437A>T
ENST00000684763.1:n.755A>T
ENST00000366578.6:c.2140A>T MANE Select	ENSP00000355537.4:p.Asn714Tyr
ENST00000492634.6:n.2070A>T
ENST00000542672.6:c.2140A>T	ENSP00000443495.1:p.Asn714Tyr
ENST00000651091.1:c.1830A>T	ENSP00000498677.1:n.1830A>T
ENST00000651275.1:c.2032A>T	ENSP00000498926.1:p.Asn678Tyr
ENST00000651781.1:c.1220A>T
ENST00000651786.1:c.*1512A>T	ENSP00000498364.1:n.*1512A>T
ENST00000652096.1:c.*1545A>T	ENSP00000498896.1:n.*1545A>T
ENST00000366578.5:c.2140A>T	ENSP00000355537.4:p.Asn714Tyr
ENST00000461367.1:n.349A>T
ENST00000542672.5:c.2140A>T	ENSP00000443495.1:p.Asn714Tyr
ENST00000546208.5:c.1516A>T	ENSP00000438384.2:p.Asn506Tyr
NM_001103.3:c.2140A>T	NP_001094.1:p.Asn714Tyr
NM_001278343.1:c.2140A>T	NP_001265272.1:p.Asn714Tyr
NM_001278344.1:c.1516A>T	NP_001265273.1:p.Asn506Tyr
NM_001278343.2:c.2140A>T	NP_001265272.1:p.Asn714Tyr
NM_001103.4:c.2140A>T MANE Select	NP_001094.1:p.Asn714Tyr
NM_001278344.2:c.1516A>T	NP_001265273.1:p.Asn506Tyr