Canonical Allele Identifier: CA346480809
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29073121-T-C
MyVariant Identifiers: chr2:g.29295987T>C (hg19) chr2:g.29073121T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073121T>C , CM000664.2:g.29073121T>C GRCh38
NC_000002.11:g.29295987T>C , CM000664.1:g.29295987T>C GRCh37
NC_000002.10:g.29149491T>C NCBI36
NG_021427.1:g.6141A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1141A>G MANE Select ENSP00000332809.4:p.Lys381Glu
ENST00000331664.5:c.1141A>G ENSP00000332809.4:p.Lys381Glu
NM_001029883.2:c.1141A>G NP_001025054.1:p.Lys381Glu
XM_011532826.1:c.1141A>G XP_011531128.1:p.Lys381Glu
XR_939901.1:n.185+3954T>C
XR_939902.1:n.173+3966T>C
NM_001029883.3:c.1141A>G MANE Select NP_001025054.1:p.Lys381Glu
Search 100 bp 5'
Search 100 bp 3'