Canonical Allele Identifier: CA346480459
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1358226
ClinVar RCV Id: RCV001864027
dbSNP Id: rs1667519372
gnomAD v4: 2-29072953-T-C
MyVariant Identifiers: chr2:g.29295819T>C (hg19) chr2:g.29072953T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072953T>C , CM000664.2:g.29072953T>C GRCh38
NC_000002.11:g.29295819T>C , CM000664.1:g.29295819T>C GRCh37
NC_000002.10:g.29149323T>C NCBI36
NG_021427.1:g.6309A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1309A>G MANE Select ENSP00000332809.4:p.Ser437Gly
ENST00000331664.5:c.1309A>G ENSP00000332809.4:p.Ser437Gly
NM_001029883.2:c.1309A>G NP_001025054.1:p.Ser437Gly
XM_011532826.1:c.1309A>G XP_011531128.1:p.Ser437Gly
XR_939901.1:n.185+3786T>C
XR_939902.1:n.173+3798T>C
NM_001029883.3:c.1309A>G MANE Select NP_001025054.1:p.Ser437Gly
Search 100 bp 5'
Search 100 bp 3'