Canonical Allele Identifier: CA1473494

Gene: ACTN2

Linked Data

• dbSNP Id: rs773297054
• ExAC: 1:236925810 C / T
• gnomAD v2: 1-236925810-C-T
• gnomAD v4: 1-236762510-C-T
• MyVariant Identifiers: chr1:g.236925810C>T (hg19) ; chr1:g.236762510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762510C>T , CM000663.2:g.236762510C>T	GRCh38
NC_000001.10:g.236925810C>T , CM000663.1:g.236925810C>T	GRCh37
NC_000001.9:g.234992433C>T	NCBI36
NG_009081.1:g.81041C>T
NG_009081.2:g.103370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2576C>T	ENSP00000443495.1:p.Ala859Val
ENST00000461367.2:n.872C>T
ENST00000492634.7:n.2506C>T
ENST00000682015.1:c.2483C>T	ENSP00000506961.1:p.Ala828Val
ENST00000682490.1:n.494C>T
ENST00000682692.1:n.3671C>T
ENST00000682966.1:n.8217C>T
ENST00000683111.1:c.*1862C>T	ENSP00000507913.1:n.*1862C>T
ENST00000683322.1:n.3928C>T
ENST00000683805.1:n.1367C>T
ENST00000684050.1:n.5214C>T
ENST00000684122.1:n.2010C>T
ENST00000684286.1:n.4131C>T
ENST00000684502.1:n.3873C>T
ENST00000684763.1:n.1191C>T
ENST00000366578.6:c.2576C>T MANE Select	ENSP00000355537.4:p.Ala859Val
ENST00000492634.6:n.2506C>T
ENST00000542672.6:c.2576C>T	ENSP00000443495.1:p.Ala859Val
ENST00000651091.1:c.2266C>T	ENSP00000498677.1:n.2266C>T
ENST00000651275.1:c.2468C>T	ENSP00000498926.1:p.Ala823Val
ENST00000651781.1:c.1656C>T
ENST00000651786.1:c.*1948C>T	ENSP00000498364.1:n.*1948C>T
ENST00000652096.1:c.*1981C>T	ENSP00000498896.1:n.*1981C>T
ENST00000366578.5:c.2576C>T	ENSP00000355537.4:p.Ala859Val
ENST00000461367.1:n.785C>T
ENST00000542672.5:c.2576C>T	ENSP00000443495.1:p.Ala859Val
ENST00000546208.5:c.1952C>T	ENSP00000438384.2:p.Ala651Val
NM_001103.3:c.2576C>T	NP_001094.1:p.Ala859Val
NM_001278343.1:c.2576C>T	NP_001265272.1:p.Ala859Val
NM_001278344.1:c.1952C>T	NP_001265273.1:p.Ala651Val
NM_001278343.2:c.2576C>T	NP_001265272.1:p.Ala859Val
NM_001103.4:c.2576C>T MANE Select	NP_001094.1:p.Ala859Val
NM_001278344.2:c.1952C>T	NP_001265273.1:p.Ala651Val