Canonical Allele Identifier: CA346475952

Gene: PCARE

Linked Data

• MyVariant Identifiers: chr2:g.29294106T>A (hg19) ; chr2:g.29071240T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071240T>A , CM000664.2:g.29071240T>A	GRCh38
NC_000002.11:g.29294106T>A , CM000664.1:g.29294106T>A	GRCh37
NC_000002.10:g.29147610T>A	NCBI36
NG_021427.1:g.8022A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3022A>T MANE Select	ENSP00000332809.4:p.Arg1008Trp
ENST00000331664.5:c.3022A>T	ENSP00000332809.4:p.Arg1008Trp
NM_001029883.2:c.3022A>T	NP_001025054.1:p.Arg1008Trp
XM_011532826.1:c.3022A>T	XP_011531128.1:p.Arg1008Trp
XR_939901.1:n.185+2073T>A
XR_939902.1:n.173+2085T>A
NM_001029883.3:c.3022A>T MANE Select	NP_001025054.1:p.Arg1008Trp