Canonical Allele Identifier: CA425616722
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1185805844
gnomAD v2: 2-29294149-C-T
gnomAD v4: 2-29071283-C-T
MyVariant Identifiers: chr2:g.29294149C>T (hg19) chr2:g.29071283C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071283C>T , CM000664.2:g.29071283C>T GRCh38
NC_000002.11:g.29294149C>T , CM000664.1:g.29294149C>T GRCh37
NC_000002.10:g.29147653C>T NCBI36
NG_021427.1:g.7979G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.2979G>A MANE Select ENSP00000332809.4:p.Lys993=
ENST00000331664.5:c.2979G>A ENSP00000332809.4:p.Lys993=
NM_001029883.2:c.2979G>A NP_001025054.1:p.Lys993=
XM_011532826.1:c.2979G>A XP_011531128.1:p.Lys993=
XR_939901.1:n.185+2116C>T
XR_939902.1:n.173+2128C>T
NM_001029883.3:c.2979G>A MANE Select NP_001025054.1:p.Lys993=
Search 100 bp 5'
Search 100 bp 3'