Canonical Allele Identifier: CA44638340

Gene: PCARE

Linked Data

• dbSNP Id: rs929334887
• MyVariant Identifiers: chr2:g.29293527C>T (hg19) ; chr2:g.29070661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070661C>T , CM000664.2:g.29070661C>T	GRCh38
NC_000002.11:g.29293527C>T , CM000664.1:g.29293527C>T	GRCh37
NC_000002.10:g.29147031C>T	NCBI36
NG_021427.1:g.8601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3601G>A MANE Select	ENSP00000332809.4:p.Gly1201Ser
ENST00000331664.5:c.3601G>A	ENSP00000332809.4:p.Gly1201Ser
NM_001029883.2:c.3601G>A	NP_001025054.1:p.Gly1201Ser
XM_011532826.1:c.3601G>A	XP_011531128.1:p.Gly1201Ser
XR_939901.1:n.185+1494C>T
XR_939902.1:n.173+1506C>T
NM_001029883.3:c.3601G>A MANE Select	NP_001025054.1:p.Gly1201Ser