Canonical Allele Identifier: CA200359

Gene: PCARE

Linked Data

• ClinVar Variation Id: 193146
• ClinVar RCV Id: RCV000173192 ; RCV000224337 ; RCV001138933 ; RCV001283146
• dbSNP Id: rs149601594
• ExAC: 2:29295065 C / T
• gnomAD v2: 2-29295065-C-T
• gnomAD v3: 2-29072199-C-T
• gnomAD v4: 2-29072199-C-T
• MyVariant Identifiers: chr2:g.29295065C>T (hg19) ; chr2:g.29072199C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29072199C>T , CM000664.2:g.29072199C>T	GRCh38
NC_000002.11:g.29295065C>T , CM000664.1:g.29295065C>T	GRCh37
NC_000002.10:g.29148569C>T	NCBI36
NG_021427.1:g.7063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.2063G>A MANE Select	ENSP00000332809.4:p.Cys688Tyr
ENST00000331664.5:c.2063G>A	ENSP00000332809.4:p.Cys688Tyr
NM_001029883.2:c.2063G>A	NP_001025054.1:p.Cys688Tyr
XM_011532826.1:c.2063G>A	XP_011531128.1:p.Cys688Tyr
XR_939901.1:n.185+3032C>T
XR_939902.1:n.173+3044C>T
NM_001029883.3:c.2063G>A MANE Select	NP_001025054.1:p.Cys688Tyr