Canonical Allele Identifier: CA346475693

Gene: PCARE

Linked Data

• MyVariant Identifiers: chr2:g.29293969C>A (hg19) ; chr2:g.29071103C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071103C>A , CM000664.2:g.29071103C>A	GRCh38
NC_000002.11:g.29293969C>A , CM000664.1:g.29293969C>A	GRCh37
NC_000002.10:g.29147473C>A	NCBI36
NG_021427.1:g.8159G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3159G>T MANE Select	ENSP00000332809.4:p.Gln1053His
ENST00000331664.5:c.3159G>T	ENSP00000332809.4:p.Gln1053His
NM_001029883.2:c.3159G>T	NP_001025054.1:p.Gln1053His
XM_011532826.1:c.3159G>T	XP_011531128.1:p.Gln1053His
XR_939901.1:n.185+1936C>A
XR_939902.1:n.173+1948C>A
NM_001029883.3:c.3159G>T MANE Select	NP_001025054.1:p.Gln1053His