Canonical Allele Identifier: CA1592097

Gene: PCARE

Linked Data

• ClinVar Variation Id: 388495
• ClinVar RCV Id: RCV000424122 ; RCV001143262 ; RCV003902595 ; RCV003889890
• dbSNP Id: rs184249075
• ExAC: 2:29294264 C / T
• gnomAD v2: 2-29294264-C-T
• gnomAD v3: 2-29071398-C-T
• gnomAD v4: 2-29071398-C-T
• MyVariant Identifiers: chr2:g.29294264C>T (hg19) ; chr2:g.29071398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071398C>T , CM000664.2:g.29071398C>T	GRCh38
NC_000002.11:g.29294264C>T , CM000664.1:g.29294264C>T	GRCh37
NC_000002.10:g.29147768C>T	NCBI36
NG_021427.1:g.7864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.2864G>A MANE Select	ENSP00000332809.4:p.Arg955Gln
ENST00000331664.5:c.2864G>A	ENSP00000332809.4:p.Arg955Gln
NM_001029883.2:c.2864G>A	NP_001025054.1:p.Arg955Gln
XM_011532826.1:c.2864G>A	XP_011531128.1:p.Arg955Gln
XR_939901.1:n.185+2231C>T
XR_939902.1:n.173+2243C>T
NM_001029883.3:c.2864G>A MANE Select	NP_001025054.1:p.Arg955Gln