Canonical Allele Identifier: CA10613095

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335604
• ClinVar RCV Id: RCV000360585 ; RCV002263609
• dbSNP Id: rs114274497
• gnomAD v2: 2-29286310-G-A
• gnomAD v3: 2-29063444-G-A
• gnomAD v4: 2-29063444-G-A
• MyVariant Identifiers: chr2:g.29286310G>A (hg19) ; chr2:g.29063444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29063444G>A , CM000664.2:g.29063444G>A	GRCh38
NC_000002.11:g.29286310G>A , CM000664.1:g.29286310G>A	GRCh37
NC_000002.10:g.29139814G>A	NCBI36
NG_021427.1:g.15818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.*1425C>T MANE Select	ENSP00000332809.4:n.*1425C>T
ENST00000331664.5:c.5292C>T	ENSP00000332809.4:n.5292C>T
NM_001029883.2:c.5292C>T	NP_001025054.1:n.5292C>T
XM_011532826.1:c.*131-30C>T	XP_011531128.1:n.*131-30C>T
NM_001029883.3:c.*1425C>T MANE Select	NP_001025054.1:n.*1425C>T