Canonical Allele Identifier: CA346480714
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs777103184
gnomAD v3: 2-29073071-C-G
gnomAD v4: 2-29073071-C-G
MyVariant Identifiers: chr2:g.29295937C>G (hg19) chr2:g.29073071C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073071C>G , CM000664.2:g.29073071C>G GRCh38
NC_000002.11:g.29295937C>G , CM000664.1:g.29295937C>G GRCh37
NC_000002.10:g.29149441C>G NCBI36
NG_021427.1:g.6191G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1191G>C MANE Select ENSP00000332809.4:p.Trp397Cys
ENST00000331664.5:c.1191G>C ENSP00000332809.4:p.Trp397Cys
NM_001029883.2:c.1191G>C NP_001025054.1:p.Trp397Cys
XM_011532826.1:c.1191G>C XP_011531128.1:p.Trp397Cys
XR_939901.1:n.185+3904C>G
XR_939902.1:n.173+3916C>G
NM_001029883.3:c.1191G>C MANE Select NP_001025054.1:p.Trp397Cys
Search 100 bp 5'
Search 100 bp 3'