Canonical Allele Identifier: CA1592494
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs748685996
ExAC: 2:29296003 T / C
gnomAD v2: 2-29296003-T-C
gnomAD v4: 2-29073137-T-C
COSMIC: COSM721292
MyVariant Identifiers: chr2:g.29296003T>C (hg19) chr2:g.29073137T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073137T>C , CM000664.2:g.29073137T>C GRCh38
NC_000002.11:g.29296003T>C , CM000664.1:g.29296003T>C GRCh37
NC_000002.10:g.29149507T>C NCBI36
NG_021427.1:g.6125A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1125A>G MANE Select ENSP00000332809.4:p.Pro375=
ENST00000331664.5:c.1125A>G ENSP00000332809.4:p.Pro375=
NM_001029883.2:c.1125A>G NP_001025054.1:p.Pro375=
XM_011532826.1:c.1125A>G XP_011531128.1:p.Pro375=
XR_939901.1:n.185+3970T>C
XR_939902.1:n.173+3982T>C
NM_001029883.3:c.1125A>G MANE Select NP_001025054.1:p.Pro375=
Search 100 bp 5'
Search 100 bp 3'