Canonical Allele Identifier: CA1592478
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1350428
ClinVar RCV Id: RCV002051325
dbSNP Id: rs367879157
ExAC: 2:29295943 G / T
gnomAD v2: 2-29295943-G-T
gnomAD v4: 2-29073077-G-T
MyVariant Identifiers: chr2:g.29295943G>T (hg19) chr2:g.29073077G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073077G>T , CM000664.2:g.29073077G>T GRCh38
NC_000002.11:g.29295943G>T , CM000664.1:g.29295943G>T GRCh37
NC_000002.10:g.29149447G>T NCBI36
NG_021427.1:g.6185C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1185C>A MANE Select ENSP00000332809.4:p.His395Gln
ENST00000331664.5:c.1185C>A ENSP00000332809.4:p.His395Gln
NM_001029883.2:c.1185C>A NP_001025054.1:p.His395Gln
XM_011532826.1:c.1185C>A XP_011531128.1:p.His395Gln
XR_939901.1:n.185+3910G>T
XR_939902.1:n.173+3922G>T
NM_001029883.3:c.1185C>A MANE Select NP_001025054.1:p.His395Gln
Search 100 bp 5'
Search 100 bp 3'