Canonical Allele Identifier: CA346475646
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs756835422
gnomAD v3: 2-29071080-G-A
gnomAD v4: 2-29071080-G-A
COSMIC: COSM3580936
MyVariant Identifiers: chr2:g.29293946G>A (hg19) chr2:g.29071080G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071080G>A , CM000664.2:g.29071080G>A GRCh38
NC_000002.11:g.29293946G>A , CM000664.1:g.29293946G>A GRCh37
NC_000002.10:g.29147450G>A NCBI36
NG_021427.1:g.8182C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3182C>T MANE Select ENSP00000332809.4:p.Pro1061Leu
ENST00000331664.5:c.3182C>T ENSP00000332809.4:p.Pro1061Leu
NM_001029883.2:c.3182C>T NP_001025054.1:p.Pro1061Leu
XM_011532826.1:c.3182C>T XP_011531128.1:p.Pro1061Leu
XR_939901.1:n.185+1913G>A
XR_939902.1:n.173+1925G>A
NM_001029883.3:c.3182C>T MANE Select NP_001025054.1:p.Pro1061Leu
Search 100 bp 5'
Search 100 bp 3'