Canonical Allele Identifier: CA2769633650

Gene: ADAMTS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179129848_179129849insCACACTCGAAC , CM000667.2:g.179129848_179129849insCACACTCGAAC	GRCh38
NC_000005.9:g.178556849_178556850insCACACTCGAAC , CM000667.1:g.178556849_178556850insCACACTCGAAC	GRCh37
NC_000005.8:g.178489455_178489456insCACACTCGAAC	NCBI36
NG_023212.2:g.220480_220481insGTTCGAGTGTG
NG_023212.3:g.220480_220481insGTTCGAGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698889.1:c.2457+83_2457+84insGTTCGAGTGTG	ENSP00000514008.1:n.2457+83_2457+84insGTTCGAGTGTG
ENST00000251582.12:c.2457+83_2457+84insGTTCGAGTGTG MANE Select	ENSP00000251582.7:n.2457+83_2457+84insGTTCGAGTGTG
ENST00000518335.3:c.2457+83_2457+84insGTTCGAGTGTG	ENSP00000489888.2:n.2457+83_2457+84insGTTCGAGTGTG
ENST00000251582.11:c.2457+83_2457+84insGTTCGAGTGTG	ENSP00000251582.7:n.2457+83_2457+84insGTTCGAGTGTG
NM_014244.4:c.2457+83_2457+84insGTTCGAGTGTG	NP_055059.2:n.2457+83_2457+84insGTTCGAGTGTG
NM_014244.5:c.2457+83_2457+84insGTTCGAGTGTG MANE Select	NP_055059.2:n.2457+83_2457+84insGTTCGAGTGTG