Canonical Allele Identifier: CA1592496
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 811353
ClinVar RCV Id: RCV001001156 RCV001247310
dbSNP Id: rs201284350
ExAC: 2:29296014 C / T
gnomAD v2: 2-29296014-C-T
gnomAD v3: 2-29073148-C-T
gnomAD v4: 2-29073148-C-T
MyVariant Identifiers: chr2:g.29296014C>T (hg19) chr2:g.29073148C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073148C>T , CM000664.2:g.29073148C>T GRCh38
NC_000002.11:g.29296014C>T , CM000664.1:g.29296014C>T GRCh37
NC_000002.10:g.29149518C>T NCBI36
NG_021427.1:g.6114G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1114G>A MANE Select ENSP00000332809.4:p.Asp372Asn
ENST00000331664.5:c.1114G>A ENSP00000332809.4:p.Asp372Asn
NM_001029883.2:c.1114G>A NP_001025054.1:p.Asp372Asn
XM_011532826.1:c.1114G>A XP_011531128.1:p.Asp372Asn
XR_939901.1:n.185+3981C>T
XR_939902.1:n.173+3993C>T
NM_001029883.3:c.1114G>A MANE Select NP_001025054.1:p.Asp372Asn
Search 100 bp 5'
Search 100 bp 3'