Canonical Allele Identifier: CA346475962
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1356291954
gnomAD v2: 2-29294111-T-C
gnomAD v4: 2-29071245-T-C
MyVariant Identifiers: chr2:g.29294111T>C (hg19) chr2:g.29071245T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071245T>C , CM000664.2:g.29071245T>C GRCh38
NC_000002.11:g.29294111T>C , CM000664.1:g.29294111T>C GRCh37
NC_000002.10:g.29147615T>C NCBI36
NG_021427.1:g.8017A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3017A>G MANE Select ENSP00000332809.4:p.Asp1006Gly
ENST00000331664.5:c.3017A>G ENSP00000332809.4:p.Asp1006Gly
NM_001029883.2:c.3017A>G NP_001025054.1:p.Asp1006Gly
XM_011532826.1:c.3017A>G XP_011531128.1:p.Asp1006Gly
XR_939901.1:n.185+2078T>C
XR_939902.1:n.173+2090T>C
NM_001029883.3:c.3017A>G MANE Select NP_001025054.1:p.Asp1006Gly
Search 100 bp 5'
Search 100 bp 3'