Canonical Allele Identifier: CA346475845
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29071183-G-A
COSMIC: COSM1407634
MyVariant Identifiers: chr2:g.29294049G>A (hg19) chr2:g.29071183G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071183G>A , CM000664.2:g.29071183G>A GRCh38
NC_000002.11:g.29294049G>A , CM000664.1:g.29294049G>A GRCh37
NC_000002.10:g.29147553G>A NCBI36
NG_021427.1:g.8079C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3079C>T MANE Select ENSP00000332809.4:p.Gln1027Ter
ENST00000331664.5:c.3079C>T ENSP00000332809.4:p.Gln1027Ter
NM_001029883.2:c.3079C>T NP_001025054.1:p.Gln1027Ter
XM_011532826.1:c.3079C>T XP_011531128.1:p.Gln1027Ter
XR_939901.1:n.185+2016G>A
XR_939902.1:n.173+2028G>A
NM_001029883.3:c.3079C>T MANE Select NP_001025054.1:p.Gln1027Ter
Search 100 bp 5'
Search 100 bp 3'