Canonical Allele Identifier: CA114143047

Gene: ADCY2

Linked Data

• dbSNP Id: rs988753705
• gnomAD v2: 5-7517381-CTT-C
• gnomAD v3: 5-7517268-CTT-C
• gnomAD v4: 5-7517268-CTT-C
• MyVariant Identifiers: chr5:g.7517382_7517383del (hg19) ; chr5:g.7517269_7517270del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7517270_7517271del , CM000667.2:g.7517270_7517271del	GRCh38
NC_000005.9:g.7517383_7517384del , CM000667.1:g.7517383_7517384del	GRCh37
NC_000005.8:g.7570383_7570384del	NCBI36
NG_046913.1:g.126041_126042del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338316.9:c.409-3468_409-3467del MANE Select	ENSP00000342952.4:n.409-3468_409-3467del
ENST00000338316.8:c.409-3468_409-3467del	ENSP00000342952.4:n.409-3468_409-3467del
ENST00000484965.5:n.143-3468_143-3467del
ENST00000498598.1:n.108-3468_108-3467del
ENST00000537121.5:c.409-3468_409-3467del	ENSP00000444803.2:n.409-3468_409-3467del
NM_020546.2:c.409-3468_409-3467del	NP_065433.2:n.409-3468_409-3467del
XM_011513942.1:c.409-3468_409-3467del	XP_011512244.1:n.409-3468_409-3467del
XR_427657.2:n.423-3468_423-3467del
XM_011513942.2:c.409-3468_409-3467del	XP_011512244.1:n.409-3468_409-3467del
XR_001741973.1:n.423-3468_423-3467del
XR_001741974.2:n.423-3468_423-3467del
NM_020546.3:c.409-3468_409-3467del MANE Select	NP_065433.2:n.409-3468_409-3467del