Canonical Allele Identifier: CA1592721

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335673
• ClinVar RCV Id: RCV000407783 ; RCV000948594 ; RCV003888802
• dbSNP Id: rs149915190
• ExAC: 2:29297026 G / A
• gnomAD v2: 2-29297026-G-A
• gnomAD v3: 2-29074160-G-A
• gnomAD v4: 2-29074160-G-A
• COSMIC: COSM1407648
• MyVariant Identifiers: chr2:g.29297026G>A (hg19) ; chr2:g.29074160G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29074160G>A , CM000664.2:g.29074160G>A	GRCh38
NC_000002.11:g.29297026G>A , CM000664.1:g.29297026G>A	GRCh37
NC_000002.10:g.29150530G>A	NCBI36
NG_021427.1:g.5102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.102C>T MANE Select	ENSP00000332809.4:p.Gly34=
ENST00000331664.5:c.102C>T	ENSP00000332809.4:p.Gly34=
NM_001029883.2:c.102C>T	NP_001025054.1:p.Gly34=
XM_011532826.1:c.102C>T	XP_011531128.1:p.Gly34=
XR_939901.1:n.185+4993G>A
XR_939902.1:n.173+5005G>A
NM_001029883.3:c.102C>T MANE Select	NP_001025054.1:p.Gly34=