Canonical Allele Identifier: CA346480377
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1441400654
gnomAD v2: 2-29295780-G-C
gnomAD v4: 2-29072914-G-C
MyVariant Identifiers: chr2:g.29295780G>C (hg19) chr2:g.29072914G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072914G>C , CM000664.2:g.29072914G>C GRCh38
NC_000002.11:g.29295780G>C , CM000664.1:g.29295780G>C GRCh37
NC_000002.10:g.29149284G>C NCBI36
NG_021427.1:g.6348C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1348C>G MANE Select ENSP00000332809.4:p.Leu450Val
ENST00000331664.5:c.1348C>G ENSP00000332809.4:p.Leu450Val
NM_001029883.2:c.1348C>G NP_001025054.1:p.Leu450Val
XM_011532826.1:c.1348C>G XP_011531128.1:p.Leu450Val
XR_939901.1:n.185+3747G>C
XR_939902.1:n.173+3759G>C
NM_001029883.3:c.1348C>G MANE Select NP_001025054.1:p.Leu450Val
Search 100 bp 5'
Search 100 bp 3'