Canonical Allele Identifier: CA200351

Gene: PCARE

Linked Data

• ClinVar Variation Id: 193140
• ClinVar RCV Id: RCV000173186 ; RCV000905069 ; RCV001138832
• dbSNP Id: rs140790266
• ExAC: 2:29294014 C / G
• gnomAD v2: 2-29294014-C-G
• gnomAD v3: 2-29071148-C-G
• gnomAD v4: 2-29071148-C-G
• MyVariant Identifiers: chr2:g.29294014C>G (hg19) ; chr2:g.29071148C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071148C>G , CM000664.2:g.29071148C>G	GRCh38
NC_000002.11:g.29294014C>G , CM000664.1:g.29294014C>G	GRCh37
NC_000002.10:g.29147518C>G	NCBI36
NG_021427.1:g.8114G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3114G>C MANE Select	ENSP00000332809.4:p.Val1038=
ENST00000331664.5:c.3114G>C	ENSP00000332809.4:p.Val1038=
NM_001029883.2:c.3114G>C	NP_001025054.1:p.Val1038=
XM_011532826.1:c.3114G>C	XP_011531128.1:p.Val1038=
XR_939901.1:n.185+1981C>G
XR_939902.1:n.173+1993C>G
NM_001029883.3:c.3114G>C MANE Select	NP_001025054.1:p.Val1038=