Canonical Allele Identifier: CA425618053
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29296423C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073557C>T , CM000664.2:g.29073557C>T GRCh38
NC_000002.11:g.29296423C>T , CM000664.1:g.29296423C>T GRCh37
NC_000002.10:g.29149927C>T NCBI36
NG_021427.1:g.5705G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.705G>A MANE Select ENSP00000332809.4:p.Glu235=
ENST00000331664.5:c.705G>A ENSP00000332809.4:p.Glu235=
NM_001029883.2:c.705G>A NP_001025054.1:p.Glu235=
XM_011532826.1:c.705G>A XP_011531128.1:p.Glu235=
XR_939901.1:n.185+4390C>T
XR_939902.1:n.173+4402C>T
NM_001029883.3:c.705G>A MANE Select NP_001025054.1:p.Glu235=