Canonical Allele Identifier: CA338416146

Gene: MAD2L2

Linked Data

• ClinVar Variation Id: 2290346
• ClinVar RCV Id: RCV004145854
• gnomAD v4: 1-11675695-G-A
• COSMIC: COSM4601654 ; COSM4601655 ; COSM4601656
• MyVariant Identifiers: chr1:g.11735752G>A (hg19) ; chr1:g.11675695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11675695G>A , CM000663.2:g.11675695G>A	GRCh38
NC_000001.10:g.11735752G>A , CM000663.1:g.11735752G>A	GRCh37
NC_000001.9:g.11658339G>A	NCBI36
NG_052907.1:g.21094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376664.11:n.893C>T
ENST00000456915.2:c.464C>T	ENSP00000400982.2:p.Ala155Val
ENST00000697272.1:c.28C>T
ENST00000697273.1:c.*283C>T	ENSP00000513220.1:n.*283C>T
ENST00000697274.1:c.464C>T	ENSP00000513221.1:p.Ala155Val
ENST00000376692.9:c.464C>T MANE Select	ENSP00000365882.4:p.Ala155Val
ENST00000235310.7:c.464C>T	ENSP00000235310.2:p.Ala155Val
ENST00000376667.7:c.464C>T	ENSP00000365855.3:p.Ala155Val
ENST00000376669.9:c.503C>T	ENSP00000365857.5:p.Ala168Val
ENST00000376672.5:c.503C>T	ENSP00000365860.1:p.Ala168Val
ENST00000376692.8:c.464C>T	ENSP00000365882.4:p.Ala155Val
ENST00000445656.5:c.554C>T	ENSP00000411807.1:p.Ala185Val
ENST00000456915.1:c.464C>T	ENSP00000400982.1:p.Ala155Val
NM_001127325.1:c.464C>T	NP_001120797.1:p.Ala155Val
NM_006341.3:c.464C>T	NP_006332.3:p.Ala155Val
XM_011540507.1:c.464C>T	XP_011538809.1:p.Ala155Val
XM_024450407.1:c.554C>T	XP_024306175.1:p.Ala185Val
NM_006341.4:c.464C>T MANE Select	NP_006332.3:p.Ala155Val
NM_001127325.2:c.464C>T	NP_001120797.1:p.Ala155Val