Canonical Allele Identifier: CA346474891
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29293676T>G (hg19) chr2:g.29070810T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070810T>G , CM000664.2:g.29070810T>G GRCh38
NC_000002.11:g.29293676T>G , CM000664.1:g.29293676T>G GRCh37
NC_000002.10:g.29147180T>G NCBI36
NG_021427.1:g.8452A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3452A>C MANE Select ENSP00000332809.4:p.Glu1151Ala
ENST00000331664.5:c.3452A>C ENSP00000332809.4:p.Glu1151Ala
NM_001029883.2:c.3452A>C NP_001025054.1:p.Glu1151Ala
XM_011532826.1:c.3452A>C XP_011531128.1:p.Glu1151Ala
XR_939901.1:n.185+1643T>G
XR_939902.1:n.173+1655T>G
NM_001029883.3:c.3452A>C MANE Select NP_001025054.1:p.Glu1151Ala
Search 100 bp 5'
Search 100 bp 3'