Canonical Allele Identifier: CA1591884
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 960810
ClinVar RCV Id: RCV001234406
dbSNP Id: rs757774860
ExAC: 2:29293520 G / A
gnomAD v2: 2-29293520-G-A
gnomAD v3: 2-29070654-G-A
gnomAD v4: 2-29070654-G-A
COSMIC: COSM3380137
MyVariant Identifiers: chr2:g.29293520G>A (hg19) chr2:g.29070654G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070654G>A , CM000664.2:g.29070654G>A GRCh38
NC_000002.11:g.29293520G>A , CM000664.1:g.29293520G>A GRCh37
NC_000002.10:g.29147024G>A NCBI36
NG_021427.1:g.8608C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3608C>T MANE Select ENSP00000332809.4:p.Pro1203Leu
ENST00000331664.5:c.3608C>T ENSP00000332809.4:p.Pro1203Leu
NM_001029883.2:c.3608C>T NP_001025054.1:p.Pro1203Leu
XM_011532826.1:c.3608C>T XP_011531128.1:p.Pro1203Leu
XR_939901.1:n.185+1487G>A
XR_939902.1:n.173+1499G>A
NM_001029883.3:c.3608C>T MANE Select NP_001025054.1:p.Pro1203Leu
Search 100 bp 5'
Search 100 bp 3'