Canonical Allele Identifier: CA1592119
Gene: PCARE HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29071459C>T
GRCh37 chr2:g.29294325C>T
Revel Score:
ENST00000331664 (MANE Select) 0.109
gnomAD v2:
2:29294325 C / T
gnomAD v3:
2:29071459 C / T
gnomAD v4:
chr2-29071459-C-T
Joint Max Group AF 0.00128622 (EAS)
Genomes Max Group AF 0.00015709 (EAS)
Exomes Max Group AF 0.00138581 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071459C>T , CM000664.2:g.29071459C>T GRCh38
NC_000002.11:g.29294325C>T , CM000664.1:g.29294325C>T GRCh37
NC_000002.10:g.29147829C>T NCBI36
NG_021427.1:g.7803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.2803G>A MANE Select ENSP00000332809.4:p.Glu935Lys
ENST00000331664.5:c.2803G>A ENSP00000332809.4:p.Glu935Lys
NM_001029883.2:c.2803G>A NP_001025054.1:p.Glu935Lys
XM_011532826.1:c.2803G>A XP_011531128.1:p.Glu935Lys
XR_939901.1:n.185+2292C>T
XR_939902.1:n.173+2304C>T
NM_001029883.3:c.2803G>A MANE Select NP_001025054.1:p.Glu935Lys
Search 100 bp 5'
Search 100 bp 3'