Canonical Allele Identifier: CA1592028
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1614141
ClinVar RCV Id: RCV002160528
dbSNP Id: rs771198527
ExAC: 2:29294041 G / A
gnomAD v2: 2-29294041-G-A
gnomAD v3: 2-29071175-G-A
gnomAD v4: 2-29071175-G-A
MyVariant Identifiers: chr2:g.29294041G>A (hg19) chr2:g.29071175G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071175G>A , CM000664.2:g.29071175G>A GRCh38
NC_000002.11:g.29294041G>A , CM000664.1:g.29294041G>A GRCh37
NC_000002.10:g.29147545G>A NCBI36
NG_021427.1:g.8087C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3087C>T MANE Select ENSP00000332809.4:p.Pro1029=
ENST00000331664.5:c.3087C>T ENSP00000332809.4:p.Pro1029=
NM_001029883.2:c.3087C>T NP_001025054.1:p.Pro1029=
XM_011532826.1:c.3087C>T XP_011531128.1:p.Pro1029=
XR_939901.1:n.185+2008G>A
XR_939902.1:n.173+2020G>A
NM_001029883.3:c.3087C>T MANE Select NP_001025054.1:p.Pro1029=
Search 100 bp 5'
Search 100 bp 3'