Canonical Allele Identifier: CA425616555
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1165497215
MyVariant Identifiers: chr2:g.29293720T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070854T>C , CM000664.2:g.29070854T>C GRCh38
NC_000002.11:g.29293720T>C , CM000664.1:g.29293720T>C GRCh37
NC_000002.10:g.29147224T>C NCBI36
NG_021427.1:g.8408A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3408A>G MANE Select ENSP00000332809.4:p.Pro1136=
ENST00000331664.5:c.3408A>G ENSP00000332809.4:p.Pro1136=
NM_001029883.2:c.3408A>G NP_001025054.1:p.Pro1136=
XM_011532826.1:c.3408A>G XP_011531128.1:p.Pro1136=
XR_939901.1:n.185+1687T>C
XR_939902.1:n.173+1699T>C
NM_001029883.3:c.3408A>G MANE Select NP_001025054.1:p.Pro1136=