Canonical Allele Identifier: CA345373548

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882242T>G (hg19) ; chr1:g.236718942T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718942T>G , CM000663.2:g.236718942T>G	GRCh38
NC_000001.10:g.236882242T>G , CM000663.1:g.236882242T>G	GRCh37
NC_000001.9:g.234948865T>G	NCBI36
NG_009081.1:g.37473T>G
NG_009081.2:g.59802T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.290T>G	ENSP00000443495.1:p.Ile97Ser
ENST00000492634.7:n.385T>G
ENST00000494762.2:n.39T>G
ENST00000682015.1:c.290T>G	ENSP00000506961.1:p.Ile97Ser
ENST00000682692.1:n.290T>G
ENST00000682966.1:n.289T>G
ENST00000683075.1:n.229T>G
ENST00000683111.1:c.233T>G	ENSP00000507913.1:p.Ile78Ser
ENST00000684050.1:n.325T>G
ENST00000684286.1:n.358T>G
ENST00000684502.1:n.325T>G
ENST00000366578.6:c.290T>G MANE Select	ENSP00000355537.4:p.Ile97Ser
ENST00000492634.6:n.385T>G
ENST00000542672.6:c.290T>G	ENSP00000443495.1:p.Ile97Ser
ENST00000651091.1:c.233T>G	ENSP00000498677.1:p.Ile78Ser
ENST00000651187.1:c.74T>G	ENSP00000498348.1:p.Ile25Ser
ENST00000651275.1:c.275T>G	ENSP00000498926.1:p.Ile92Ser
ENST00000651786.1:c.290T>G	ENSP00000498364.1:p.Ile97Ser
ENST00000652096.1:c.290T>G	ENSP00000498896.1:p.Ile97Ser
ENST00000366578.5:c.290T>G	ENSP00000355537.4:p.Ile97Ser
ENST00000492634.5:n.437T>G
ENST00000542672.5:c.290T>G	ENSP00000443495.1:p.Ile97Ser
ENST00000546208.5:c.-532T>G	ENSP00000438384.2:n.-532T>G
NM_001103.3:c.290T>G	NP_001094.1:p.Ile97Ser
NM_001278343.1:c.290T>G	NP_001265272.1:p.Ile97Ser
NM_001278344.1:c.-532T>G	NP_001265273.1:n.-532T>G
NM_001278343.2:c.290T>G	NP_001265272.1:p.Ile97Ser
NM_001103.4:c.290T>G MANE Select	NP_001094.1:p.Ile97Ser
NM_001278344.2:c.-532T>G	NP_001265273.1:n.-532T>G