Canonical Allele Identifier: CA15380118

Gene: ADAMTS2

Linked Data

• dbSNP Id: rs10039254
• gnomAD v2: 5-178570914-A-G
• gnomAD v3: 5-179143913-A-G
• gnomAD v4: 5-179143913-A-G
• MyVariant Identifiers: chr5:g.178570914A>G (hg19) ; chr5:g.179143913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179143913A>G , CM000667.2:g.179143913A>G	GRCh38
NC_000005.9:g.178570914A>G , CM000667.1:g.178570914A>G	GRCh37
NC_000005.8:g.178503520A>G	NCBI36
NG_023212.2:g.206416T>C
NG_023212.3:g.206416T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698889.1:c.1630-3878T>C	ENSP00000514008.1:n.1630-3878T>C
ENST00000251582.12:c.1630-3878T>C MANE Select	ENSP00000251582.7:n.1630-3878T>C
ENST00000518335.3:c.1630-3878T>C	ENSP00000489888.2:n.1630-3878T>C
ENST00000251582.11:c.1630-3878T>C	ENSP00000251582.7:n.1630-3878T>C
NM_014244.4:c.1630-3878T>C	NP_055059.2:n.1630-3878T>C
NM_014244.5:c.1630-3878T>C MANE Select	NP_055059.2:n.1630-3878T>C