Canonical Allele Identifier: CA10581769

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 238299
• ClinVar RCV Id: RCV001397873 ; RCV002429104
• dbSNP Id: rs878854173
• gnomAD v4: 1-236757512-G-T
• MyVariant Identifiers: chr1:g.236920812G>T (hg19) ; chr1:g.236757512G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757512G>T , CM000663.2:g.236757512G>T	GRCh38
NC_000001.10:g.236920812G>T , CM000663.1:g.236920812G>T	GRCh37
NC_000001.9:g.234987435G>T	NCBI36
NG_009081.1:g.76043G>T
NG_009081.2:g.98372G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2181G>T	ENSP00000443495.1:p.Leu727=
ENST00000461367.2:n.477G>T
ENST00000492634.7:n.2111G>T
ENST00000682015.1:c.2088G>T	ENSP00000506961.1:p.Leu696=
ENST00000682490.1:n.99G>T
ENST00000682692.1:n.3276G>T
ENST00000682966.1:n.7822G>T
ENST00000683111.1:c.*1467G>T	ENSP00000507913.1:n.*1467G>T
ENST00000683322.1:n.3533G>T
ENST00000683805.1:n.972G>T
ENST00000684050.1:n.4819G>T
ENST00000684122.1:n.328G>T
ENST00000684286.1:n.3736G>T
ENST00000684502.1:n.3478G>T
ENST00000684763.1:n.796G>T
ENST00000366578.6:c.2181G>T MANE Select	ENSP00000355537.4:p.Leu727=
ENST00000492634.6:n.2111G>T
ENST00000542672.6:c.2181G>T	ENSP00000443495.1:p.Leu727=
ENST00000651091.1:c.1871G>T	ENSP00000498677.1:n.1871G>T
ENST00000651275.1:c.2073G>T	ENSP00000498926.1:p.Leu691=
ENST00000651781.1:c.1261G>T
ENST00000651786.1:c.*1553G>T	ENSP00000498364.1:n.*1553G>T
ENST00000652096.1:c.*1586G>T	ENSP00000498896.1:n.*1586G>T
ENST00000366578.5:c.2181G>T	ENSP00000355537.4:p.Leu727=
ENST00000461367.1:n.390G>T
ENST00000542672.5:c.2181G>T	ENSP00000443495.1:p.Leu727=
ENST00000546208.5:c.1557G>T	ENSP00000438384.2:p.Leu519=
NM_001103.3:c.2181G>T	NP_001094.1:p.Leu727=
NM_001278343.1:c.2181G>T	NP_001265272.1:p.Leu727=
NM_001278344.1:c.1557G>T	NP_001265273.1:p.Leu519=
NM_001278343.2:c.2181G>T	NP_001265272.1:p.Leu727=
NM_001103.4:c.2181G>T MANE Select	NP_001094.1:p.Leu727=
NM_001278344.2:c.1557G>T	NP_001265273.1:p.Leu519=