Canonical Allele Identifier: CA2676856066

Gene: ADAMTS2

Linked Data

• gnomAD v4: 5-179129804-A-AAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179129809_179129812dup , CM000667.2:g.179129809_179129812dup	GRCh38
NC_000005.9:g.178556810_178556813dup , CM000667.1:g.178556810_178556813dup	GRCh37
NC_000005.8:g.178489416_178489419dup	NCBI36
NG_023212.2:g.220521_220524dup
NG_023212.3:g.220521_220524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698889.1:c.2457+124_2457+127dup	ENSP00000514008.1:n.2457+124_2457+127dup
ENST00000251582.12:c.2457+124_2457+127dup MANE Select	ENSP00000251582.7:n.2457+124_2457+127dup
ENST00000518335.3:c.2457+124_2457+127dup	ENSP00000489888.2:n.2457+124_2457+127dup
ENST00000251582.11:c.2457+124_2457+127dup	ENSP00000251582.7:n.2457+124_2457+127dup
NM_014244.4:c.2457+124_2457+127dup	NP_055059.2:n.2457+124_2457+127dup
NM_014244.5:c.2457+124_2457+127dup MANE Select	NP_055059.2:n.2457+124_2457+127dup