Canonical Allele Identifier: CA1591870

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335639
• ClinVar RCV Id: RCV000282618 ; RCV002057690
• dbSNP Id: rs554321432
• ExAC: 2:29293470 C / T
• gnomAD v2: 2-29293470-C-T
• gnomAD v3: 2-29070604-C-T
• gnomAD v4: 2-29070604-C-T
• COSMIC: COSM5497615
• MyVariant Identifiers: chr2:g.29293470C>T (hg19) ; chr2:g.29070604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070604C>T , CM000664.2:g.29070604C>T	GRCh38
NC_000002.11:g.29293470C>T , CM000664.1:g.29293470C>T	GRCh37
NC_000002.10:g.29146974C>T	NCBI36
NG_021427.1:g.8658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3658G>A MANE Select	ENSP00000332809.4:p.Gly1220Ser
ENST00000331664.5:c.3658G>A	ENSP00000332809.4:p.Gly1220Ser
NM_001029883.2:c.3658G>A	NP_001025054.1:p.Gly1220Ser
XM_011532826.1:c.3658G>A	XP_011531128.1:p.Gly1220Ser
XR_939901.1:n.185+1437C>T
XR_939902.1:n.173+1449C>T
NM_001029883.3:c.3658G>A MANE Select	NP_001025054.1:p.Gly1220Ser