Canonical Allele Identifier: CA557836055
Gene: ADCY2 HGNC NCBI

Linked Data

dbSNP Id: rs1470337931
gnomAD v2: 5-7530873-T-G
gnomAD v3: 5-7530760-T-G
gnomAD v4: 5-7530760-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7530760T>G , CM000667.2:g.7530760T>G GRCh38
NC_000005.9:g.7530873T>G , CM000667.1:g.7530873T>G GRCh37
NC_000005.8:g.7583873T>G NCBI36
NG_046913.1:g.139531T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338316.9:c.570+9861T>G MANE Select ENSP00000342952.4:n.570+9861T>G
ENST00000338316.8:c.570+9861T>G ENSP00000342952.4:n.570+9861T>G
ENST00000498598.1:n.269+9861T>G
ENST00000537121.5:c.565+9861T>G ENSP00000444803.2:n.565+9861T>G
NM_020546.2:c.570+9861T>G NP_065433.2:n.570+9861T>G
XM_011513942.1:c.570+9861T>G XP_011512244.1:n.570+9861T>G
XR_427657.2:n.584+9861T>G
XM_011513942.2:c.570+9861T>G XP_011512244.1:n.570+9861T>G
XR_001741973.1:n.584+9861T>G
XR_001741974.2:n.584+9861T>G
NM_020546.3:c.570+9861T>G MANE Select NP_065433.2:n.570+9861T>G