Canonical Allele Identifier: CA345386905

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236754029-A-T
• MyVariant Identifiers: chr1:g.236917329A>T (hg19) ; chr1:g.236754029A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754029A>T , CM000663.2:g.236754029A>T	GRCh38
NC_000001.10:g.236917329A>T , CM000663.1:g.236917329A>T	GRCh37
NC_000001.9:g.234983952A>T	NCBI36
NG_009081.1:g.72560A>T
NG_009081.2:g.94889A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1922A>T	ENSP00000443495.1:p.Gln641Leu
ENST00000461367.2:n.218A>T
ENST00000492634.7:n.1852A>T
ENST00000682015.1:c.1829A>T	ENSP00000506961.1:p.Gln610Leu
ENST00000682692.1:n.3017A>T
ENST00000682966.1:n.7563A>T
ENST00000683111.1:c.*1208A>T	ENSP00000507913.1:n.*1208A>T
ENST00000683322.1:n.3274A>T
ENST00000684050.1:n.4560A>T
ENST00000684286.1:n.3477A>T
ENST00000684502.1:n.3219A>T
ENST00000684763.1:n.537A>T
ENST00000366578.6:c.1922A>T MANE Select	ENSP00000355537.4:p.Gln641Leu
ENST00000492634.6:n.1852A>T
ENST00000542672.6:c.1922A>T	ENSP00000443495.1:p.Gln641Leu
ENST00000651091.1:c.1612A>T	ENSP00000498677.1:n.1612A>T
ENST00000651275.1:c.1814A>T	ENSP00000498926.1:p.Gln605Leu
ENST00000651781.1:c.1002A>T
ENST00000651786.1:c.*1294A>T	ENSP00000498364.1:n.*1294A>T
ENST00000652096.1:c.*1327A>T	ENSP00000498896.1:n.*1327A>T
ENST00000366578.5:c.1922A>T	ENSP00000355537.4:p.Gln641Leu
ENST00000461367.1:n.131A>T
ENST00000542672.5:c.1922A>T	ENSP00000443495.1:p.Gln641Leu
ENST00000546208.5:c.1298A>T	ENSP00000438384.2:p.Gln433Leu
NM_001103.3:c.1922A>T	NP_001094.1:p.Gln641Leu
NM_001278343.1:c.1922A>T	NP_001265272.1:p.Gln641Leu
NM_001278344.1:c.1298A>T	NP_001265273.1:p.Gln433Leu
NM_001278343.2:c.1922A>T	NP_001265272.1:p.Gln641Leu
NM_001103.4:c.1922A>T MANE Select	NP_001094.1:p.Gln641Leu
NM_001278344.2:c.1298A>T	NP_001265273.1:p.Gln433Leu