Canonical Allele Identifier: CA1072983551
Gene: ADCY2 HGNC NCBI

Linked Data

dbSNP Id: rs1734608374
gnomAD v3: 5-7530609-GA-G
gnomAD v4: 5-7530609-GA-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7530610del , CM000667.2:g.7530610del GRCh38
NC_000005.9:g.7530723del , CM000667.1:g.7530723del GRCh37
NC_000005.8:g.7583723del NCBI36
NG_046913.1:g.139381del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338316.9:c.570+9711del MANE Select ENSP00000342952.4:n.570+9711del
ENST00000338316.8:c.570+9711del ENSP00000342952.4:n.570+9711del
ENST00000498598.1:n.269+9711del
ENST00000537121.5:c.565+9711del ENSP00000444803.2:n.565+9711del
NM_020546.2:c.570+9711del NP_065433.2:n.570+9711del
XM_011513942.1:c.570+9711del XP_011512244.1:n.570+9711del
XR_427657.2:n.584+9711del
XM_011513942.2:c.570+9711del XP_011512244.1:n.570+9711del
XR_001741973.1:n.584+9711del
XR_001741974.2:n.584+9711del
NM_020546.3:c.570+9711del MANE Select NP_065433.2:n.570+9711del