Canonical Allele Identifier: CA39748139

Gene: ACTN2

Linked Data

• dbSNP Id: rs755438133
• MyVariant Identifiers: chr1:g.236925763A>T (hg19) ; chr1:g.236762463A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762463A>T , CM000663.2:g.236762463A>T	GRCh38
NC_000001.10:g.236925763A>T , CM000663.1:g.236925763A>T	GRCh37
NC_000001.9:g.234992386A>T	NCBI36
NG_009081.1:g.80994A>T
NG_009081.2:g.103323A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2529A>T	ENSP00000443495.1:p.Pro843=
ENST00000461367.2:n.825A>T
ENST00000492634.7:n.2459A>T
ENST00000682015.1:c.2436A>T	ENSP00000506961.1:p.Pro812=
ENST00000682490.1:n.447A>T
ENST00000682692.1:n.3624A>T
ENST00000682966.1:n.8170A>T
ENST00000683111.1:c.*1815A>T	ENSP00000507913.1:n.*1815A>T
ENST00000683322.1:n.3881A>T
ENST00000683805.1:n.1320A>T
ENST00000684050.1:n.5167A>T
ENST00000684122.1:n.1963A>T
ENST00000684286.1:n.4084A>T
ENST00000684502.1:n.3826A>T
ENST00000684763.1:n.1144A>T
ENST00000366578.6:c.2529A>T MANE Select	ENSP00000355537.4:p.Pro843=
ENST00000492634.6:n.2459A>T
ENST00000542672.6:c.2529A>T	ENSP00000443495.1:p.Pro843=
ENST00000651091.1:c.2219A>T	ENSP00000498677.1:n.2219A>T
ENST00000651275.1:c.2421A>T	ENSP00000498926.1:p.Pro807=
ENST00000651781.1:c.1609A>T
ENST00000651786.1:c.*1901A>T	ENSP00000498364.1:n.*1901A>T
ENST00000652096.1:c.*1934A>T	ENSP00000498896.1:n.*1934A>T
ENST00000366578.5:c.2529A>T	ENSP00000355537.4:p.Pro843=
ENST00000461367.1:n.738A>T
ENST00000542672.5:c.2529A>T	ENSP00000443495.1:p.Pro843=
ENST00000546208.5:c.1905A>T	ENSP00000438384.2:p.Pro635=
NM_001103.3:c.2529A>T	NP_001094.1:p.Pro843=
NM_001278343.1:c.2529A>T	NP_001265272.1:p.Pro843=
NM_001278344.1:c.1905A>T	NP_001265273.1:p.Pro635=
NM_001278343.2:c.2529A>T	NP_001265272.1:p.Pro843=
NM_001103.4:c.2529A>T MANE Select	NP_001094.1:p.Pro843=
NM_001278344.2:c.1905A>T	NP_001265273.1:p.Pro635=