Canonical Allele Identifier: CA423811230

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925871G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762571G>T , CM000663.2:g.236762571G>T	GRCh38
NC_000001.10:g.236925871G>T , CM000663.1:g.236925871G>T	GRCh37
NC_000001.9:g.234992494G>T	NCBI36
NG_009081.1:g.81102G>T
NG_009081.2:g.103431G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2637G>T	ENSP00000443495.1:p.Leu879=
ENST00000461367.2:n.933G>T
ENST00000492634.7:n.2567G>T
ENST00000682015.1:c.2544G>T	ENSP00000506961.1:p.Leu848=
ENST00000682490.1:n.555G>T
ENST00000682692.1:n.3732G>T
ENST00000682966.1:n.8278G>T
ENST00000683111.1:c.*1923G>T	ENSP00000507913.1:n.*1923G>T
ENST00000683322.1:n.3989G>T
ENST00000683805.1:n.1428G>T
ENST00000684050.1:n.5275G>T
ENST00000684122.1:n.2071G>T
ENST00000684286.1:n.4192G>T
ENST00000684502.1:n.3934G>T
ENST00000684763.1:n.1252G>T
ENST00000366578.6:c.2637G>T MANE Select	ENSP00000355537.4:p.Leu879=
ENST00000492634.6:n.2567G>T
ENST00000542672.6:c.2637G>T	ENSP00000443495.1:p.Leu879=
ENST00000651091.1:c.2327G>T	ENSP00000498677.1:n.2327G>T
ENST00000651275.1:c.2529G>T	ENSP00000498926.1:p.Leu843=
ENST00000651781.1:c.1717G>T
ENST00000651786.1:c.*2009G>T	ENSP00000498364.1:n.*2009G>T
ENST00000652096.1:c.*2042G>T	ENSP00000498896.1:n.*2042G>T
ENST00000366578.5:c.2637G>T	ENSP00000355537.4:p.Leu879=
ENST00000542672.5:c.2637G>T	ENSP00000443495.1:p.Leu879=
ENST00000546208.5:c.2013G>T	ENSP00000438384.2:p.Leu671=
NM_001103.3:c.2637G>T	NP_001094.1:p.Leu879=
NM_001278343.1:c.2637G>T	NP_001265272.1:p.Leu879=
NM_001278344.1:c.2013G>T	NP_001265273.1:p.Leu671=
NM_001278343.2:c.2637G>T	NP_001265272.1:p.Leu879=
NM_001103.4:c.2637G>T MANE Select	NP_001094.1:p.Leu879=
NM_001278344.2:c.2013G>T	NP_001265273.1:p.Leu671=