Canonical Allele Identifier: CA423806949

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882204G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718904G>A , CM000663.2:g.236718904G>A	GRCh38
NC_000001.10:g.236882204G>A , CM000663.1:g.236882204G>A	GRCh37
NC_000001.9:g.234948827G>A	NCBI36
NG_009081.1:g.37435G>A
NG_009081.2:g.59764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.252G>A	ENSP00000443495.1:p.Leu84=
ENST00000492634.7:n.347G>A
ENST00000494762.2:n.1G>A
ENST00000682015.1:c.252G>A	ENSP00000506961.1:p.Leu84=
ENST00000682692.1:n.252G>A
ENST00000682966.1:n.251G>A
ENST00000683075.1:n.191G>A
ENST00000683111.1:c.195G>A	ENSP00000507913.1:p.Leu65=
ENST00000684050.1:n.287G>A
ENST00000684286.1:n.320G>A
ENST00000684502.1:n.287G>A
ENST00000366578.6:c.252G>A MANE Select	ENSP00000355537.4:p.Leu84=
ENST00000492634.6:n.347G>A
ENST00000542672.6:c.252G>A	ENSP00000443495.1:p.Leu84=
ENST00000651091.1:c.195G>A	ENSP00000498677.1:p.Leu65=
ENST00000651187.1:c.36G>A	ENSP00000498348.1:p.Leu12=
ENST00000651275.1:c.237G>A	ENSP00000498926.1:p.Leu79=
ENST00000651786.1:c.252G>A	ENSP00000498364.1:p.Leu84=
ENST00000652096.1:c.252G>A	ENSP00000498896.1:p.Leu84=
ENST00000366578.5:c.252G>A	ENSP00000355537.4:p.Leu84=
ENST00000492634.5:n.399G>A
ENST00000542672.5:c.252G>A	ENSP00000443495.1:p.Leu84=
ENST00000546208.5:c.-570G>A	ENSP00000438384.2:n.-570G>A
NM_001103.3:c.252G>A	NP_001094.1:p.Leu84=
NM_001278343.1:c.252G>A	NP_001265272.1:p.Leu84=
NM_001278344.1:c.-570G>A	NP_001265273.1:n.-570G>A
NM_001278343.2:c.252G>A	NP_001265272.1:p.Leu84=
NM_001103.4:c.252G>A MANE Select	NP_001094.1:p.Leu84=
NM_001278344.2:c.-570G>A	NP_001265273.1:n.-570G>A