Canonical Allele Identifier: CA1592452
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs750602329
ExAC: 2:29295815 G / A
gnomAD v2: 2-29295815-G-A
gnomAD v4: 2-29072949-G-A
COSMIC: COSM1198729
MyVariant Identifiers: chr2:g.29295815G>A (hg19) chr2:g.29072949G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072949G>A , CM000664.2:g.29072949G>A GRCh38
NC_000002.11:g.29295815G>A , CM000664.1:g.29295815G>A GRCh37
NC_000002.10:g.29149319G>A NCBI36
NG_021427.1:g.6313C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1313C>T MANE Select ENSP00000332809.4:p.Thr438Ile
ENST00000331664.5:c.1313C>T ENSP00000332809.4:p.Thr438Ile
NM_001029883.2:c.1313C>T NP_001025054.1:p.Thr438Ile
XM_011532826.1:c.1313C>T XP_011531128.1:p.Thr438Ile
XR_939901.1:n.185+3782G>A
XR_939902.1:n.173+3794G>A
NM_001029883.3:c.1313C>T MANE Select NP_001025054.1:p.Thr438Ile
Search 100 bp 5'
Search 100 bp 3'