Canonical Allele Identifier: CA1591946
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs756152942
ExAC: 2:29293724 G / T
gnomAD v2: 2-29293724-G-T
gnomAD v4: 2-29070858-G-T
MyVariant Identifiers: chr2:g.29293724G>T (hg19) chr2:g.29070858G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070858G>T , CM000664.2:g.29070858G>T GRCh38
NC_000002.11:g.29293724G>T , CM000664.1:g.29293724G>T GRCh37
NC_000002.10:g.29147228G>T NCBI36
NG_021427.1:g.8404C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3404C>A MANE Select ENSP00000332809.4:p.Pro1135Gln
ENST00000331664.5:c.3404C>A ENSP00000332809.4:p.Pro1135Gln
NM_001029883.2:c.3404C>A NP_001025054.1:p.Pro1135Gln
XM_011532826.1:c.3404C>A XP_011531128.1:p.Pro1135Gln
XR_939901.1:n.185+1691G>T
XR_939902.1:n.173+1703G>T
NM_001029883.3:c.3404C>A MANE Select NP_001025054.1:p.Pro1135Gln
Search 100 bp 5'
Search 100 bp 3'