Canonical Allele Identifier: CA1592053

Gene: PCARE

Linked Data

• ClinVar Variation Id: 438048
• ClinVar RCV Id: RCV000504713 ; RCV000627266 ; RCV001074819 ; RCV001352960 ; RCV001197047 ; RCV003935321
• dbSNP Id: rs367658438
• ExAC: 2:29294126 C / T
• gnomAD v2: 2-29294126-C-T
• gnomAD v3: 2-29071260-C-T
• gnomAD v4: 2-29071260-C-T
• MyVariant Identifiers: chr2:g.29294126C>T (hg19) ; chr2:g.29071260C>T (hg38)
• PubMed: PMID:21412943 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071260C>T , CM000664.2:g.29071260C>T	GRCh38
NC_000002.11:g.29294126C>T , CM000664.1:g.29294126C>T	GRCh37
NC_000002.10:g.29147630C>T	NCBI36
NG_021427.1:g.8002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3002G>A MANE Select	ENSP00000332809.4:p.Trp1001Ter
ENST00000331664.5:c.3002G>A	ENSP00000332809.4:p.Trp1001Ter
NM_001029883.2:c.3002G>A	NP_001025054.1:p.Trp1001Ter
XM_011532826.1:c.3002G>A	XP_011531128.1:p.Trp1001Ter
XR_939901.1:n.185+2093C>T
XR_939902.1:n.173+2105C>T
NM_001029883.3:c.3002G>A MANE Select	NP_001025054.1:p.Trp1001Ter