Canonical Allele Identifier: CA233555

Gene: PCARE

Linked Data

• ClinVar Variation Id: 166760
• ClinVar RCV Id: RCV000152890 ; RCV000625234 ; RCV000879053 ; RCV001136691 ; RCV003975196
• dbSNP Id: rs182248363
• ExAC: 2:29294528 G / A
• gnomAD v2: 2-29294528-G-A
• gnomAD v3: 2-29071662-G-A
• gnomAD v4: 2-29071662-G-A
• MyVariant Identifiers: chr2:g.29294528G>A (hg19) ; chr2:g.29071662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071662G>A , CM000664.2:g.29071662G>A	GRCh38
NC_000002.11:g.29294528G>A , CM000664.1:g.29294528G>A	GRCh37
NC_000002.10:g.29148032G>A	NCBI36
NG_021427.1:g.7600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.2600C>T MANE Select	ENSP00000332809.4:p.Pro867Leu
ENST00000331664.5:c.2600C>T	ENSP00000332809.4:p.Pro867Leu
NM_001029883.2:c.2600C>T	NP_001025054.1:p.Pro867Leu
XM_011532826.1:c.2600C>T	XP_011531128.1:p.Pro867Leu
XR_939901.1:n.185+2495G>A
XR_939902.1:n.173+2507G>A
NM_001029883.3:c.2600C>T MANE Select	NP_001025054.1:p.Pro867Leu