Canonical Allele Identifier: CA175225

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 162724
• ClinVar RCV Id: RCV000150145 ; RCV000259303 ; RCV000638643 ; RCV000620274 ; RCV004551302
• dbSNP Id: rs368367224
• ExAC: 1:236849991 C / A
• gnomAD v2: 1-236849991-C-A
• gnomAD v3: 1-236686691-C-A
• gnomAD v4: 1-236686691-C-A
• MyVariant Identifiers: chr1:g.236849991C>A (hg19) ; chr1:g.236686691C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236686691C>A , CM000663.2:g.236686691C>A	GRCh38
NC_000001.10:g.236849991C>A , CM000663.1:g.236849991C>A	GRCh37
NC_000001.9:g.234916614C>A	NCBI36
NG_009081.1:g.5222C>A
NG_009081.2:g.27551C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.18C>A	ENSP00000443495.1:p.Pro6=
ENST00000682015.1:c.18C>A	ENSP00000506961.1:p.Pro6=
ENST00000682692.1:n.18C>A
ENST00000682966.1:n.17C>A
ENST00000683111.1:c.-40C>A	ENSP00000507913.1:n.-40C>A
ENST00000684050.1:n.53C>A
ENST00000684286.1:n.86C>A
ENST00000684502.1:n.53C>A
ENST00000366578.6:c.18C>A MANE Select	ENSP00000355537.4:p.Pro6=
ENST00000542672.6:c.18C>A	ENSP00000443495.1:p.Pro6=
ENST00000651187.1:c.-91+9581C>A	ENSP00000498348.1:n.-91+9581C>A
ENST00000651275.1:c.3C>A	ENSP00000498926.1:p.Pro1=
ENST00000651786.1:c.18C>A	ENSP00000498364.1:p.Pro6=
ENST00000652096.1:c.18C>A	ENSP00000498896.1:p.Pro6=
ENST00000366578.5:c.18C>A	ENSP00000355537.4:p.Pro6=
ENST00000492634.5:n.165C>A
ENST00000542672.5:c.18C>A	ENSP00000443495.1:p.Pro6=
ENST00000546208.5:c.-804C>A	ENSP00000438384.2:n.-804C>A
NM_001103.3:c.18C>A	NP_001094.1:p.Pro6=
NM_001278343.1:c.18C>A	NP_001265272.1:p.Pro6=
NM_001278344.1:c.-804C>A	NP_001265273.1:n.-804C>A
NM_001278343.2:c.18C>A	NP_001265272.1:p.Pro6=
NM_001103.4:c.18C>A MANE Select	NP_001094.1:p.Pro6=
NM_001278344.2:c.-804C>A	NP_001265273.1:n.-804C>A