Canonical Allele Identifier: CA16604401
Gene: ACTG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 384793
ClinVar RCV Id: RCV000437539
dbSNP Id: rs1057522054

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73908764A>G , CM000664.2:g.73908764A>G GRCh38
NC_000002.11:g.74135891A>G , CM000664.1:g.74135891A>G GRCh37
NC_000002.10:g.73989399A>G NCBI36
NG_034140.1:g.20799A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000345517.8:c.347A>G MANE Select ENSP00000295137.3:p.Asn116Ser
ENST00000345517.7:c.347A>G ENSP00000295137.3:p.Asn116Ser
ENST00000409624.1:c.347A>G ENSP00000386857.1:p.Asn116Ser
ENST00000409731.7:c.218A>G ENSP00000386929.3:p.Asn73Ser
ENST00000429756.5:c.*102A>G ENSP00000392894.1:n.*102A>G
ENST00000438902.6:c.*412A>G ENSP00000410706.2:n.*412A>G
ENST00000442912.5:c.347A>G ENSP00000410020.1:p.Asn116Ser
NM_001199893.1:c.218A>G NP_001186822.1:p.Asn73Ser
NM_001615.3:c.347A>G NP_001606.1:p.Asn116Ser
NM_001199893.2:c.218A>G NP_001186822.1:p.Asn73Ser
NM_001615.4:c.347A>G MANE Select NP_001606.1:p.Asn116Ser