Canonical Allele Identifier: CA1592050

Gene: PCARE

Linked Data

• ClinVar Variation Id: 1361798
• ClinVar RCV Id: RCV001899858 ; RCV003401790
• dbSNP Id: rs768648796
• ExAC: 2:29294107 C / A
• gnomAD v2: 2-29294107-C-A
• gnomAD v4: 2-29071241-C-A
• MyVariant Identifiers: chr2:g.29294107C>A (hg19) ; chr2:g.29071241C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071241C>A , CM000664.2:g.29071241C>A	GRCh38
NC_000002.11:g.29294107C>A , CM000664.1:g.29294107C>A	GRCh37
NC_000002.10:g.29147611C>A	NCBI36
NG_021427.1:g.8021G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3021G>T MANE Select	ENSP00000332809.4:p.Lys1007Asn
ENST00000331664.5:c.3021G>T	ENSP00000332809.4:p.Lys1007Asn
NM_001029883.2:c.3021G>T	NP_001025054.1:p.Lys1007Asn
XM_011532826.1:c.3021G>T	XP_011531128.1:p.Lys1007Asn
XR_939901.1:n.185+2074C>A
XR_939902.1:n.173+2086C>A
NM_001029883.3:c.3021G>T MANE Select	NP_001025054.1:p.Lys1007Asn