Canonical Allele Identifier: CA1592491
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1061870
ClinVar RCV Id: RCV001371527
dbSNP Id: rs752707840
ExAC: 2:29295988 C / A
gnomAD v2: 2-29295988-C-A
gnomAD v3: 2-29073122-C-A
gnomAD v4: 2-29073122-C-A
MyVariant Identifiers: chr2:g.29295988C>A (hg19) chr2:g.29073122C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073122C>A , CM000664.2:g.29073122C>A GRCh38
NC_000002.11:g.29295988C>A , CM000664.1:g.29295988C>A GRCh37
NC_000002.10:g.29149492C>A NCBI36
NG_021427.1:g.6140G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1140G>T MANE Select ENSP00000332809.4:p.Trp380Cys
ENST00000331664.5:c.1140G>T ENSP00000332809.4:p.Trp380Cys
NM_001029883.2:c.1140G>T NP_001025054.1:p.Trp380Cys
XM_011532826.1:c.1140G>T XP_011531128.1:p.Trp380Cys
XR_939901.1:n.185+3955C>A
XR_939902.1:n.173+3967C>A
NM_001029883.3:c.1140G>T MANE Select NP_001025054.1:p.Trp380Cys
Search 100 bp 5'
Search 100 bp 3'