Canonical Allele Identifier: CA425617981
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1667521055
gnomAD v4: 2-29073020-G-A
MyVariant Identifiers: chr2:g.29295886G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073020G>A , CM000664.2:g.29073020G>A GRCh38
NC_000002.11:g.29295886G>A , CM000664.1:g.29295886G>A GRCh37
NC_000002.10:g.29149390G>A NCBI36
NG_021427.1:g.6242C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1242C>T MANE Select ENSP00000332809.4:p.Leu414=
ENST00000331664.5:c.1242C>T ENSP00000332809.4:p.Leu414=
NM_001029883.2:c.1242C>T NP_001025054.1:p.Leu414=
XM_011532826.1:c.1242C>T XP_011531128.1:p.Leu414=
XR_939901.1:n.185+3853G>A
XR_939902.1:n.173+3865G>A
NM_001029883.3:c.1242C>T MANE Select NP_001025054.1:p.Leu414=
Search 100 bp 5'
Search 100 bp 3'