Canonical Allele Identifier: CA174754

Gene: PREX2

Linked Data

• ClinVar Variation Id: 161771
• ClinVar RCV Id: RCV000149307
• dbSNP Id: rs193920825
• ExAC: 8:68982066 G / A
• gnomAD v2: 8-68982066-G-A
• gnomAD v3: 8-68069831-G-A
• gnomAD v4: 8-68069831-G-A
• MyVariant Identifiers: chr8:g.68982066G>A (hg19) ; chr8:g.68069831G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.68069831G>A , CM000670.2:g.68069831G>A	GRCh38
NC_000008.10:g.68982066G>A , CM000670.1:g.68982066G>A	GRCh37
NC_000008.9:g.69144620G>A	NCBI36
NG_047022.1:g.122849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288368.5:c.1444-4G>A MANE Select	ENSP00000288368.4:n.1444-4G>A
ENST00000288368.4:c.1444-4G>A	ENSP00000288368.4:n.1444-4G>A
ENST00000517617.1:n.1155-4G>A
ENST00000529398.5:n.1471-4G>A
NM_024870.2:c.1444-4G>A	NP_079146.2:n.1444-4G>A
NM_025170.4:c.1444-4G>A	NP_079446.3:n.1444-4G>A
XM_011517612.1:c.1444-4G>A	XP_011515914.1:n.1444-4G>A
NM_024870.3:c.1444-4G>A	NP_079146.2:n.1444-4G>A
NM_025170.5:c.1444-4G>A	NP_079446.3:n.1444-4G>A
XM_011517612.3:c.1444-4G>A	XP_011515914.1:n.1444-4G>A
NM_024870.4:c.1444-4G>A MANE Select	NP_079146.2:n.1444-4G>A
NM_025170.6:c.1444-4G>A	NP_079446.3:n.1444-4G>A