Canonical Allele Identifier: CA346476049
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1387131433
gnomAD v2: 2-29294153-C-A
MyVariant Identifiers: chr2:g.29294153C>A (hg19) chr2:g.29071287C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071287C>A , CM000664.2:g.29071287C>A GRCh38
NC_000002.11:g.29294153C>A , CM000664.1:g.29294153C>A GRCh37
NC_000002.10:g.29147657C>A NCBI36
NG_021427.1:g.7975G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.2975G>T MANE Select ENSP00000332809.4:p.Arg992Ile
ENST00000331664.5:c.2975G>T ENSP00000332809.4:p.Arg992Ile
NM_001029883.2:c.2975G>T NP_001025054.1:p.Arg992Ile
XM_011532826.1:c.2975G>T XP_011531128.1:p.Arg992Ile
XR_939901.1:n.185+2120C>A
XR_939902.1:n.173+2132C>A
NM_001029883.3:c.2975G>T MANE Select NP_001025054.1:p.Arg992Ile
Search 100 bp 5'
Search 100 bp 3'