Canonical Allele Identifier: CA44643823
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1127342
ClinVar RCV Id: RCV001459728
dbSNP Id: rs561939948
gnomAD v2: 2-29296458-G-A
gnomAD v3: 2-29073592-G-A
gnomAD v4: 2-29073592-G-A
MyVariant Identifiers: chr2:g.29296458G>A (hg19) chr2:g.29073592G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073592G>A , CM000664.2:g.29073592G>A GRCh38
NC_000002.11:g.29296458G>A , CM000664.1:g.29296458G>A GRCh37
NC_000002.10:g.29149962G>A NCBI36
NG_021427.1:g.5670C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.670C>T MANE Select ENSP00000332809.4:p.Leu224=
ENST00000331664.5:c.670C>T ENSP00000332809.4:p.Leu224=
NM_001029883.2:c.670C>T NP_001025054.1:p.Leu224=
XM_011532826.1:c.670C>T XP_011531128.1:p.Leu224=
XR_939901.1:n.185+4425G>A
XR_939902.1:n.173+4437G>A
NM_001029883.3:c.670C>T MANE Select NP_001025054.1:p.Leu224=
Search 100 bp 5'
Search 100 bp 3'