Canonical Allele Identifier: CA1591881
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 999191
ClinVar RCV Id: RCV001295155
dbSNP Id: rs758885470
ExAC: 2:29293515 G / A
gnomAD v2: 2-29293515-G-A
gnomAD v3: 2-29070649-G-A
gnomAD v4: 2-29070649-G-A
MyVariant Identifiers: chr2:g.29293515G>A (hg19) chr2:g.29070649G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070649G>A , CM000664.2:g.29070649G>A GRCh38
NC_000002.11:g.29293515G>A , CM000664.1:g.29293515G>A GRCh37
NC_000002.10:g.29147019G>A NCBI36
NG_021427.1:g.8613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3613C>T MANE Select ENSP00000332809.4:p.Pro1205Ser
ENST00000331664.5:c.3613C>T ENSP00000332809.4:p.Pro1205Ser
NM_001029883.2:c.3613C>T NP_001025054.1:p.Pro1205Ser
XM_011532826.1:c.3613C>T XP_011531128.1:p.Pro1205Ser
XR_939901.1:n.185+1482G>A
XR_939902.1:n.173+1494G>A
NM_001029883.3:c.3613C>T MANE Select NP_001025054.1:p.Pro1205Ser
Search 100 bp 5'
Search 100 bp 3'