Canonical Allele Identifier: CA1072983568
Gene: ADCY2 HGNC NCBI

Linked Data

dbSNP Id: rs1734609450
gnomAD v3: 5-7530632-C-T
gnomAD v4: 5-7530632-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7530632C>T , CM000667.2:g.7530632C>T GRCh38
NC_000005.9:g.7530745C>T , CM000667.1:g.7530745C>T GRCh37
NC_000005.8:g.7583745C>T NCBI36
NG_046913.1:g.139403C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338316.9:c.570+9733C>T MANE Select ENSP00000342952.4:n.570+9733C>T
ENST00000338316.8:c.570+9733C>T ENSP00000342952.4:n.570+9733C>T
ENST00000498598.1:n.269+9733C>T
ENST00000537121.5:c.565+9733C>T ENSP00000444803.2:n.565+9733C>T
NM_020546.2:c.570+9733C>T NP_065433.2:n.570+9733C>T
XM_011513942.1:c.570+9733C>T XP_011512244.1:n.570+9733C>T
XR_427657.2:n.584+9733C>T
XM_011513942.2:c.570+9733C>T XP_011512244.1:n.570+9733C>T
XR_001741973.1:n.584+9733C>T
XR_001741974.2:n.584+9733C>T
NM_020546.3:c.570+9733C>T MANE Select NP_065433.2:n.570+9733C>T