Canonical Allele Identifier: CA1591896
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs760365817
ExAC: 2:29293556 C / T
gnomAD v2: 2-29293556-C-T
gnomAD v4: 2-29070690-C-T
MyVariant Identifiers: chr2:g.29293556C>T (hg19) chr2:g.29070690C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070690C>T , CM000664.2:g.29070690C>T GRCh38
NC_000002.11:g.29293556C>T , CM000664.1:g.29293556C>T GRCh37
NC_000002.10:g.29147060C>T NCBI36
NG_021427.1:g.8572G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3572G>A MANE Select ENSP00000332809.4:p.Arg1191Lys
ENST00000331664.5:c.3572G>A ENSP00000332809.4:p.Arg1191Lys
NM_001029883.2:c.3572G>A NP_001025054.1:p.Arg1191Lys
XM_011532826.1:c.3572G>A XP_011531128.1:p.Arg1191Lys
XR_939901.1:n.185+1523C>T
XR_939902.1:n.173+1535C>T
NM_001029883.3:c.3572G>A MANE Select NP_001025054.1:p.Arg1191Lys
Search 100 bp 5'
Search 100 bp 3'