Canonical Allele Identifier: CA425616848
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29071181-C-T
MyVariant Identifiers: chr2:g.29294047C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071181C>T , CM000664.2:g.29071181C>T GRCh38
NC_000002.11:g.29294047C>T , CM000664.1:g.29294047C>T GRCh37
NC_000002.10:g.29147551C>T NCBI36
NG_021427.1:g.8081G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3081G>A MANE Select ENSP00000332809.4:p.Gln1027=
ENST00000331664.5:c.3081G>A ENSP00000332809.4:p.Gln1027=
NM_001029883.2:c.3081G>A NP_001025054.1:p.Gln1027=
XM_011532826.1:c.3081G>A XP_011531128.1:p.Gln1027=
XR_939901.1:n.185+2014C>T
XR_939902.1:n.173+2026C>T
NM_001029883.3:c.3081G>A MANE Select NP_001025054.1:p.Gln1027=