Canonical Allele Identifier: CA448034400

Gene: ADAMTS2

Linked Data

• MyVariant Identifiers: chr5:g.178556990C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179129989C>T , CM000667.2:g.179129989C>T	GRCh38
NC_000005.9:g.178556990C>T , CM000667.1:g.178556990C>T	GRCh37
NC_000005.8:g.178489596C>T	NCBI36
NG_023212.2:g.220340G>A
NG_023212.3:g.220340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698889.1:c.2400G>A	ENSP00000514008.1:p.Glu800=
ENST00000251582.12:c.2400G>A MANE Select	ENSP00000251582.7:p.Glu800=
ENST00000518335.3:c.2400G>A	ENSP00000489888.2:p.Glu800=
ENST00000251582.11:c.2400G>A	ENSP00000251582.7:p.Glu800=
NM_014244.4:c.2400G>A	NP_055059.2:p.Glu800=
NM_014244.5:c.2400G>A MANE Select	NP_055059.2:p.Glu800=