Canonical Allele Identifier: CA1591940
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1044018
ClinVar RCV Id: RCV001348208
dbSNP Id: rs372078185
ExAC: 2:29293691 G / T
gnomAD v2: 2-29293691-G-T
gnomAD v3: 2-29070825-G-T
gnomAD v4: 2-29070825-G-T
MyVariant Identifiers: chr2:g.29293691G>T (hg19) chr2:g.29070825G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070825G>T , CM000664.2:g.29070825G>T GRCh38
NC_000002.11:g.29293691G>T , CM000664.1:g.29293691G>T GRCh37
NC_000002.10:g.29147195G>T NCBI36
NG_021427.1:g.8437C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3437C>A MANE Select ENSP00000332809.4:p.Pro1146Gln
ENST00000331664.5:c.3437C>A ENSP00000332809.4:p.Pro1146Gln
NM_001029883.2:c.3437C>A NP_001025054.1:p.Pro1146Gln
XM_011532826.1:c.3437C>A XP_011531128.1:p.Pro1146Gln
XR_939901.1:n.185+1658G>T
XR_939902.1:n.173+1670G>T
NM_001029883.3:c.3437C>A MANE Select NP_001025054.1:p.Pro1146Gln
Search 100 bp 5'
Search 100 bp 3'