Canonical Allele Identifier: CA521182354

Gene: MAD2L2

Linked Data

• dbSNP Id: rs1201404299
• gnomAD v2: 1-11736679-C-G
• gnomAD v3: 1-11676622-C-G
• gnomAD v4: 1-11676622-C-G
• MyVariant Identifiers: chr1:g.11736679C>G (hg19) ; chr1:g.11676622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11676622C>G , CM000663.2:g.11676622C>G	GRCh38
NC_000001.10:g.11736679C>G , CM000663.1:g.11736679C>G	GRCh37
NC_000001.9:g.11659266C>G	NCBI36
NG_052907.1:g.20167G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376664.11:n.447+226G>C
ENST00000456915.2:c.332+226G>C	ENSP00000400982.2:n.332+226G>C
ENST00000697273.1:c.*151+226G>C	ENSP00000513220.1:n.*151+226G>C
ENST00000697274.1:c.332+226G>C	ENSP00000513221.1:n.332+226G>C
ENST00000376692.9:c.332+226G>C MANE Select	ENSP00000365882.4:n.332+226G>C
ENST00000235310.7:c.332+226G>C	ENSP00000235310.2:n.332+226G>C
ENST00000376664.10:n.417+226G>C
ENST00000376667.7:c.332+226G>C	ENSP00000365855.3:n.332+226G>C
ENST00000376669.9:c.371+187G>C	ENSP00000365857.5:n.371+187G>C
ENST00000376672.5:c.371+187G>C	ENSP00000365860.1:n.371+187G>C
ENST00000376692.8:c.332+226G>C	ENSP00000365882.4:n.332+226G>C
ENST00000445656.5:c.422+226G>C	ENSP00000411807.1:n.422+226G>C
ENST00000456915.1:c.332+226G>C	ENSP00000400982.1:n.332+226G>C
NM_001127325.1:c.332+226G>C	NP_001120797.1:n.332+226G>C
NM_006341.3:c.332+226G>C	NP_006332.3:n.332+226G>C
XM_011540507.1:c.332+226G>C	XP_011538809.1:n.332+226G>C
XM_024450407.1:c.422+226G>C	XP_024306175.1:n.422+226G>C
NM_006341.4:c.332+226G>C MANE Select	NP_006332.3:n.332+226G>C
NM_001127325.2:c.332+226G>C	NP_001120797.1:n.332+226G>C