Canonical Allele Identifier: CA346475960
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v4: 2-29071244-G-C
MyVariant Identifiers: chr2:g.29294110G>C (hg19) chr2:g.29071244G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071244G>C , CM000664.2:g.29071244G>C GRCh38
NC_000002.11:g.29294110G>C , CM000664.1:g.29294110G>C GRCh37
NC_000002.10:g.29147614G>C NCBI36
NG_021427.1:g.8018C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3018C>G MANE Select ENSP00000332809.4:p.Asp1006Glu
ENST00000331664.5:c.3018C>G ENSP00000332809.4:p.Asp1006Glu
NM_001029883.2:c.3018C>G NP_001025054.1:p.Asp1006Glu
XM_011532826.1:c.3018C>G XP_011531128.1:p.Asp1006Glu
XR_939901.1:n.185+2077G>C
XR_939902.1:n.173+2089G>C
NM_001029883.3:c.3018C>G MANE Select NP_001025054.1:p.Asp1006Glu
Search 100 bp 5'
Search 100 bp 3'