Canonical Allele Identifier: CA1592722

Gene: PCARE

Linked Data

• ClinVar Variation Id: 285034
• ClinVar RCV Id: RCV000334926 ; RCV000960229 ; RCV001143464
• dbSNP Id: rs146455733
• ExAC: 2:29297029 C / T
• gnomAD v2: 2-29297029-C-T
• gnomAD v3: 2-29074163-C-T
• gnomAD v4: 2-29074163-C-T
• MyVariant Identifiers: chr2:g.29297029C>T (hg19) ; chr2:g.29074163C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29074163C>T , CM000664.2:g.29074163C>T	GRCh38
NC_000002.11:g.29297029C>T , CM000664.1:g.29297029C>T	GRCh37
NC_000002.10:g.29150533C>T	NCBI36
NG_021427.1:g.5099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.99G>A MANE Select	ENSP00000332809.4:p.Gln33=
ENST00000331664.5:c.99G>A	ENSP00000332809.4:p.Gln33=
NM_001029883.2:c.99G>A	NP_001025054.1:p.Gln33=
XM_011532826.1:c.99G>A	XP_011531128.1:p.Gln33=
XR_939901.1:n.185+4996C>T
XR_939902.1:n.173+5008C>T
NM_001029883.3:c.99G>A MANE Select	NP_001025054.1:p.Gln33=