Canonical Allele Identifier: CA133158
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43919
dbSNP Id: rs368367224

Genomic Alleles

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

Transcript Alleles

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