Canonical Allele Identifier: CA1592724

Gene: PCARE

Linked Data

• ClinVar Variation Id: 498446
• ClinVar RCV Id: RCV000593474 ; RCV001143465 ; RCV003889930
• dbSNP Id: rs201706430
• ExAC: 2:29297043 G / A
• gnomAD v2: 2-29297043-G-A
• gnomAD v3: 2-29074177-G-A
• gnomAD v4: 2-29074177-G-A
• COSMIC: COSM2941384
• MyVariant Identifiers: chr2:g.29297043G>A (hg19) ; chr2:g.29074177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29074177G>A , CM000664.2:g.29074177G>A	GRCh38
NC_000002.11:g.29297043G>A , CM000664.1:g.29297043G>A	GRCh37
NC_000002.10:g.29150547G>A	NCBI36
NG_021427.1:g.5085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.85C>T MANE Select	ENSP00000332809.4:p.Arg29Trp
ENST00000331664.5:c.85C>T	ENSP00000332809.4:p.Arg29Trp
NM_001029883.2:c.85C>T	NP_001025054.1:p.Arg29Trp
XM_011532826.1:c.85C>T	XP_011531128.1:p.Arg29Trp
XR_939901.1:n.185+5010G>A
XR_939902.1:n.173+5022G>A
NM_001029883.3:c.85C>T MANE Select	NP_001025054.1:p.Arg29Trp