Canonical Allele Identifier: CA10032949

Gene: MX2

Linked Data

• ClinVar Variation Id: 1014005
• ClinVar RCV Id: RCV001312680 ; RCV004034262
• dbSNP Id: rs527335705
• ExAC: 21:42749839 G / A
• gnomAD v2: 21-42749839-G-A
• gnomAD v3: 21-41377912-G-A
• gnomAD v4: 21-41377912-G-A
• COSMIC: COSM444503
• MyVariant Identifiers: chr21:g.42749839G>A (hg19) ; chr21:g.41377912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41377912G>A , CM000683.2:g.41377912G>A	GRCh38
NC_000021.8:g.42749839G>A , CM000683.1:g.42749839G>A	GRCh37
NC_000021.7:g.41671709G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330714.8:c.373G>A MANE Select	ENSP00000333657.3:p.Gly125Arg
ENST00000418103.2:c.373G>A	ENSP00000410188.2:p.Gly125Arg
ENST00000435611.6:c.373G>A	ENSP00000389256.2:p.Gly125Arg
ENST00000493753.2:n.430G>A
ENST00000680862.1:c.373G>A	ENSP00000506423.1:p.Gly125Arg
ENST00000330714.7:c.373G>A	ENSP00000333657.3:p.Gly125Arg
ENST00000418103.1:c.373G>A	ENSP00000410188.1:p.Gly125Arg
ENST00000435611.5:c.373G>A	ENSP00000389256.1:p.Gly125Arg
ENST00000436410.5:c.373G>A	ENSP00000393975.1:p.Gly125Arg
NM_002463.1:c.373G>A	NP_002454.1:p.Gly125Arg
XM_005260983.3:c.373G>A	XP_005261040.1:p.Gly125Arg
XM_005260984.1:c.373G>A	XP_005261041.1:p.Gly125Arg
XM_011529571.1:c.373G>A	XP_011527873.1:p.Gly125Arg
XM_011529572.1:c.373G>A	XP_011527874.1:p.Gly125Arg
XM_011529573.1:c.373G>A	XP_011527875.1:p.Gly125Arg
XM_005260983.5:c.373G>A	XP_005261040.1:p.Gly125Arg
XM_011529572.2:c.373G>A	XP_011527874.1:p.Gly125Arg
XM_011529573.2:c.373G>A	XP_011527875.1:p.Gly125Arg
XM_024452080.1:c.373G>A	XP_024307848.1:p.Gly125Arg
NM_002463.2:c.373G>A MANE Select	NP_002454.1:p.Gly125Arg