Canonical Allele Identifier: CA1592495
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1019604
ClinVar RCV Id: RCV001319061
dbSNP Id: rs368965009
ExAC: 2:29296007 G / C
gnomAD v2: 2-29296007-G-C
gnomAD v3: 2-29073141-G-C
gnomAD v4: 2-29073141-G-C
MyVariant Identifiers: chr2:g.29296007G>C (hg19) chr2:g.29073141G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073141G>C , CM000664.2:g.29073141G>C GRCh38
NC_000002.11:g.29296007G>C , CM000664.1:g.29296007G>C GRCh37
NC_000002.10:g.29149511G>C NCBI36
NG_021427.1:g.6121C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1121C>G MANE Select ENSP00000332809.4:p.Ala374Gly
ENST00000331664.5:c.1121C>G ENSP00000332809.4:p.Ala374Gly
NM_001029883.2:c.1121C>G NP_001025054.1:p.Ala374Gly
XM_011532826.1:c.1121C>G XP_011531128.1:p.Ala374Gly
XR_939901.1:n.185+3974G>C
XR_939902.1:n.173+3986G>C
NM_001029883.3:c.1121C>G MANE Select NP_001025054.1:p.Ala374Gly
Search 100 bp 5'
Search 100 bp 3'