Canonical Allele Identifier: CA425616705
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29294143A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071277A>C , CM000664.2:g.29071277A>C GRCh38
NC_000002.11:g.29294143A>C , CM000664.1:g.29294143A>C GRCh37
NC_000002.10:g.29147647A>C NCBI36
NG_021427.1:g.7985T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.2985T>G MANE Select ENSP00000332809.4:p.Ser995=
ENST00000331664.5:c.2985T>G ENSP00000332809.4:p.Ser995=
NM_001029883.2:c.2985T>G NP_001025054.1:p.Ser995=
XM_011532826.1:c.2985T>G XP_011531128.1:p.Ser995=
XR_939901.1:n.185+2110A>C
XR_939902.1:n.173+2122A>C
NM_001029883.3:c.2985T>G MANE Select NP_001025054.1:p.Ser995=