Canonical Allele Identifier: CA16603593

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 390314
• ClinVar RCV Id: RCV000435130 ; RCV000560681 ; RCV001798812 ; RCV004022467
• dbSNP Id: rs1057523721
• gnomAD v3: 1-236686692-G-A
• gnomAD v4: 1-236686692-G-A
• MyVariant Identifiers: chr1:g.236849992G>A (hg19) ; chr1:g.236686692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236686692G>A , CM000663.2:g.236686692G>A	GRCh38
NC_000001.10:g.236849992G>A , CM000663.1:g.236849992G>A	GRCh37
NC_000001.9:g.234916615G>A	NCBI36
NG_009081.1:g.5223G>A
NG_009081.2:g.27552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.19G>A	ENSP00000443495.1:p.Gly7Ser
ENST00000682015.1:c.19G>A	ENSP00000506961.1:p.Gly7Ser
ENST00000682692.1:n.19G>A
ENST00000682966.1:n.18G>A
ENST00000683111.1:c.-39G>A	ENSP00000507913.1:n.-39G>A
ENST00000684050.1:n.54G>A
ENST00000684286.1:n.87G>A
ENST00000684502.1:n.54G>A
ENST00000366578.6:c.19G>A MANE Select	ENSP00000355537.4:p.Gly7Ser
ENST00000542672.6:c.19G>A	ENSP00000443495.1:p.Gly7Ser
ENST00000651187.1:c.-91+9582G>A	ENSP00000498348.1:n.-91+9582G>A
ENST00000651275.1:c.4G>A	ENSP00000498926.1:p.Gly2Ser
ENST00000651786.1:c.19G>A	ENSP00000498364.1:p.Gly7Ser
ENST00000652096.1:c.19G>A	ENSP00000498896.1:p.Gly7Ser
ENST00000366578.5:c.19G>A	ENSP00000355537.4:p.Gly7Ser
ENST00000492634.5:n.166G>A
ENST00000542672.5:c.19G>A	ENSP00000443495.1:p.Gly7Ser
ENST00000546208.5:c.-803G>A	ENSP00000438384.2:n.-803G>A
NM_001103.3:c.19G>A	NP_001094.1:p.Gly7Ser
NM_001278343.1:c.19G>A	NP_001265272.1:p.Gly7Ser
NM_001278344.1:c.-803G>A	NP_001265273.1:n.-803G>A
NM_001278343.2:c.19G>A	NP_001265272.1:p.Gly7Ser
NM_001103.4:c.19G>A MANE Select	NP_001094.1:p.Gly7Ser
NM_001278344.2:c.-803G>A	NP_001265273.1:n.-803G>A