Canonical Allele Identifier: CA10613084

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335581
• ClinVar RCV Id: RCV000352443 ; RCV003422310
• dbSNP Id: rs188247308
• gnomAD v2: 2-29285173-C-G
• gnomAD v3: 2-29062307-C-G
• gnomAD v4: 2-29062307-C-G
• MyVariant Identifiers: chr2:g.29285173C>G (hg19) ; chr2:g.29062307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29062307C>G , CM000664.2:g.29062307C>G	GRCh38
NC_000002.11:g.29285173C>G , CM000664.1:g.29285173C>G	GRCh37
NC_000002.10:g.29138677C>G	NCBI36
NG_021427.1:g.16955G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.*2562G>C MANE Select	ENSP00000332809.4:n.*2562G>C
ENST00000331664.5:c.6429G>C	ENSP00000332809.4:n.6429G>C
NM_001029883.2:c.6429G>C	NP_001025054.1:n.6429G>C
XM_011532826.1:c.*382-652G>C	XP_011531128.1:n.*382-652G>C
NM_001029883.3:c.*2562G>C MANE Select	NP_001025054.1:n.*2562G>C