Canonical Allele Identifier: CA425616683
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs2148415022
gnomAD v4: 2-29071067-A-G
MyVariant Identifiers: chr2:g.29293933A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071067A>G , CM000664.2:g.29071067A>G GRCh38
NC_000002.11:g.29293933A>G , CM000664.1:g.29293933A>G GRCh37
NC_000002.10:g.29147437A>G NCBI36
NG_021427.1:g.8195T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3195T>C MANE Select ENSP00000332809.4:p.Pro1065=
ENST00000331664.5:c.3195T>C ENSP00000332809.4:p.Pro1065=
NM_001029883.2:c.3195T>C NP_001025054.1:p.Pro1065=
XM_011532826.1:c.3195T>C XP_011531128.1:p.Pro1065=
XR_939901.1:n.185+1900A>G
XR_939902.1:n.173+1912A>G
NM_001029883.3:c.3195T>C MANE Select NP_001025054.1:p.Pro1065=