Canonical Allele Identifier: CA16042235

Gene: MAD2L2

Linked Data

• ClinVar Variation Id: 372196
• ClinVar RCV Id: RCV000412563 ; RCV001194790
• dbSNP Id: rs1057517674
• MyVariant Identifiers: chr1:g.11736983A>T (hg19) ; chr1:g.11676926A>T (hg38)
• PubMed: PMID:27500492

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11676926A>T , CM000663.2:g.11676926A>T	GRCh38
NC_000001.10:g.11736983A>T , CM000663.1:g.11736983A>T	GRCh37
NC_000001.9:g.11659570A>T	NCBI36
NG_052907.1:g.19863T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376664.11:n.369T>A
ENST00000456915.2:c.254T>A	ENSP00000400982.2:p.Val85Glu
ENST00000697273.1:c.*73T>A	ENSP00000513220.1:n.*73T>A
ENST00000697274.1:c.254T>A	ENSP00000513221.1:p.Val85Glu
ENST00000376692.9:c.254T>A MANE Select	ENSP00000365882.4:p.Val85Glu
ENST00000235310.7:c.254T>A	ENSP00000235310.2:p.Val85Glu
ENST00000376655.1:n.1041T>A
ENST00000376664.10:n.339T>A
ENST00000376667.7:c.254T>A	ENSP00000365855.3:p.Val85Glu
ENST00000376669.9:c.254T>A	ENSP00000365857.5:p.Val85Glu
ENST00000376672.5:c.254T>A	ENSP00000365860.1:p.Val85Glu
ENST00000376692.8:c.254T>A	ENSP00000365882.4:p.Val85Glu
ENST00000445656.5:c.344T>A	ENSP00000411807.1:p.Val115Glu
ENST00000456915.1:c.254T>A	ENSP00000400982.1:p.Val85Glu
NM_001127325.1:c.254T>A	NP_001120797.1:p.Val85Glu
NM_006341.3:c.254T>A	NP_006332.3:p.Val85Glu
XM_011540507.1:c.254T>A	XP_011538809.1:p.Val85Glu
XM_024450407.1:c.344T>A	XP_024306175.1:p.Val115Glu
NM_006341.4:c.254T>A MANE Select	NP_006332.3:p.Val85Glu
NM_001127325.2:c.254T>A	NP_001120797.1:p.Val85Glu