Canonical Allele Identifier: CA346475604
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29071058-G-T
MyVariant Identifiers: chr2:g.29293924G>T (hg19) chr2:g.29071058G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071058G>T , CM000664.2:g.29071058G>T GRCh38
NC_000002.11:g.29293924G>T , CM000664.1:g.29293924G>T GRCh37
NC_000002.10:g.29147428G>T NCBI36
NG_021427.1:g.8204C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3204C>A MANE Select ENSP00000332809.4:p.Cys1068Ter
ENST00000331664.5:c.3204C>A ENSP00000332809.4:p.Cys1068Ter
NM_001029883.2:c.3204C>A NP_001025054.1:p.Cys1068Ter
XM_011532826.1:c.3204C>A XP_011531128.1:p.Cys1068Ter
XR_939901.1:n.185+1891G>T
XR_939902.1:n.173+1903G>T
NM_001029883.3:c.3204C>A MANE Select NP_001025054.1:p.Cys1068Ter
Search 100 bp 5'
Search 100 bp 3'