Canonical Allele Identifier: CA425437990
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29293543A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070677A>G , CM000664.2:g.29070677A>G GRCh38
NC_000002.11:g.29293543A>G , CM000664.1:g.29293543A>G GRCh37
NC_000002.10:g.29147047A>G NCBI36
NG_021427.1:g.8585T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3585T>C MANE Select ENSP00000332809.4:p.Ser1195=
ENST00000331664.5:c.3585T>C ENSP00000332809.4:p.Ser1195=
NM_001029883.2:c.3585T>C NP_001025054.1:p.Ser1195=
XM_011532826.1:c.3585T>C XP_011531128.1:p.Ser1195=
XR_939901.1:n.185+1510A>G
XR_939902.1:n.173+1522A>G
NM_001029883.3:c.3585T>C MANE Select NP_001025054.1:p.Ser1195=