Canonical Allele Identifier: CA423806957

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882213T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718913T>A , CM000663.2:g.236718913T>A	GRCh38
NC_000001.10:g.236882213T>A , CM000663.1:g.236882213T>A	GRCh37
NC_000001.9:g.234948836T>A	NCBI36
NG_009081.1:g.37444T>A
NG_009081.2:g.59773T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.261T>A	ENSP00000443495.1:p.Pro87=
ENST00000492634.7:n.356T>A
ENST00000494762.2:n.10T>A
ENST00000682015.1:c.261T>A	ENSP00000506961.1:p.Pro87=
ENST00000682692.1:n.261T>A
ENST00000682966.1:n.260T>A
ENST00000683075.1:n.200T>A
ENST00000683111.1:c.204T>A	ENSP00000507913.1:p.Pro68=
ENST00000684050.1:n.296T>A
ENST00000684286.1:n.329T>A
ENST00000684502.1:n.296T>A
ENST00000366578.6:c.261T>A MANE Select	ENSP00000355537.4:p.Pro87=
ENST00000492634.6:n.356T>A
ENST00000542672.6:c.261T>A	ENSP00000443495.1:p.Pro87=
ENST00000651091.1:c.204T>A	ENSP00000498677.1:p.Pro68=
ENST00000651187.1:c.45T>A	ENSP00000498348.1:p.Pro15=
ENST00000651275.1:c.246T>A	ENSP00000498926.1:p.Pro82=
ENST00000651786.1:c.261T>A	ENSP00000498364.1:p.Pro87=
ENST00000652096.1:c.261T>A	ENSP00000498896.1:p.Pro87=
ENST00000366578.5:c.261T>A	ENSP00000355537.4:p.Pro87=
ENST00000492634.5:n.408T>A
ENST00000542672.5:c.261T>A	ENSP00000443495.1:p.Pro87=
ENST00000546208.5:c.-561T>A	ENSP00000438384.2:n.-561T>A
NM_001103.3:c.261T>A	NP_001094.1:p.Pro87=
NM_001278343.1:c.261T>A	NP_001265272.1:p.Pro87=
NM_001278344.1:c.-561T>A	NP_001265273.1:n.-561T>A
NM_001278343.2:c.261T>A	NP_001265272.1:p.Pro87=
NM_001103.4:c.261T>A MANE Select	NP_001094.1:p.Pro87=
NM_001278344.2:c.-561T>A	NP_001265273.1:n.-561T>A