Canonical Allele Identifier: CA17964496

Gene: MAD2L2

Linked Data

• dbSNP Id: rs982736193
• gnomAD v3: 1-11676501-G-A
• gnomAD v4: 1-11676501-G-A
• MyVariant Identifiers: chr1:g.11736558G>A (hg19) ; chr1:g.11676501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11676501G>A , CM000663.2:g.11676501G>A	GRCh38
NC_000001.10:g.11736558G>A , CM000663.1:g.11736558G>A	GRCh37
NC_000001.9:g.11659145G>A	NCBI36
NG_052907.1:g.20288C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376664.11:n.447+347C>T
ENST00000456915.2:c.332+347C>T	ENSP00000400982.2:n.332+347C>T
ENST00000697273.1:c.*151+347C>T	ENSP00000513220.1:n.*151+347C>T
ENST00000697274.1:c.332+347C>T	ENSP00000513221.1:n.332+347C>T
ENST00000376692.9:c.332+347C>T MANE Select	ENSP00000365882.4:n.332+347C>T
ENST00000235310.7:c.332+347C>T	ENSP00000235310.2:n.332+347C>T
ENST00000376664.10:n.417+347C>T
ENST00000376667.7:c.332+347C>T	ENSP00000365855.3:n.332+347C>T
ENST00000376669.9:c.371+308C>T	ENSP00000365857.5:n.371+308C>T
ENST00000376672.5:c.371+308C>T	ENSP00000365860.1:n.371+308C>T
ENST00000376692.8:c.332+347C>T	ENSP00000365882.4:n.332+347C>T
ENST00000445656.5:c.422+347C>T	ENSP00000411807.1:n.422+347C>T
ENST00000456915.1:c.332+347C>T	ENSP00000400982.1:n.332+347C>T
NM_001127325.1:c.332+347C>T	NP_001120797.1:n.332+347C>T
NM_006341.3:c.332+347C>T	NP_006332.3:n.332+347C>T
XM_011540507.1:c.332+347C>T	XP_011538809.1:n.332+347C>T
XM_024450407.1:c.422+347C>T	XP_024306175.1:n.422+347C>T
NM_006341.4:c.332+347C>T MANE Select	NP_006332.3:n.332+347C>T
NM_001127325.2:c.332+347C>T	NP_001120797.1:n.332+347C>T