Canonical Allele Identifier: CA3595507
Gene: ADAMTS2 HGNC NCBI

Linked Data

dbSNP Id: rs753947828
ExAC: 5:178554954 C / G
gnomAD v2: 5-178554954-C-G
MyVariant Identifiers: chr5:g.178554954C>G (hg19) chr5:g.179127953C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179127953C>G , CM000667.2:g.179127953C>G GRCh38
NC_000005.9:g.178554954C>G , CM000667.1:g.178554954C>G GRCh37
NC_000005.8:g.178487560C>G NCBI36
NG_023212.2:g.222376G>C
NG_023212.3:g.222376G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2617+6G>C ENSP00000514008.1:n.2617+6G>C
ENST00000251582.12:c.2617+6G>C MANE Select ENSP00000251582.7:n.2617+6G>C
ENST00000518335.3:c.2617+6G>C ENSP00000489888.2:n.2617+6G>C
ENST00000251582.11:c.2617+6G>C ENSP00000251582.7:n.2617+6G>C
NM_014244.4:c.2617+6G>C NP_055059.2:n.2617+6G>C
NM_014244.5:c.2617+6G>C MANE Select NP_055059.2:n.2617+6G>C
Search 100 bp 5'
Search 100 bp 3'