Canonical Allele Identifier: CA114172982
Gene: ADCY2 HGNC NCBI

Linked Data

dbSNP Id: rs765560015
gnomAD v2: 5-7649866-A-G
gnomAD v3: 5-7649753-A-G
gnomAD v4: 5-7649753-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7649753A>G , CM000667.2:g.7649753A>G GRCh38
NC_000005.9:g.7649866A>G , CM000667.1:g.7649866A>G GRCh37
NC_000005.8:g.7702866A>G NCBI36
NG_046913.1:g.258524A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338316.9:c.720+23437A>G MANE Select ENSP00000342952.4:n.720+23437A>G
ENST00000338316.8:c.720+23437A>G ENSP00000342952.4:n.720+23437A>G
ENST00000498598.1:n.420-8273A>G
ENST00000515681.1:c.87+23437A>G ENSP00000425069.1:n.87+23437A>G
ENST00000537121.5:c.714+23437A>G ENSP00000444803.2:n.714+23437A>G
NM_020546.2:c.720+23437A>G NP_065433.2:n.720+23437A>G
XM_011513942.1:c.720+23437A>G XP_011512244.1:n.720+23437A>G
XR_427657.2:n.734+23437A>G
XM_011513942.2:c.720+23437A>G XP_011512244.1:n.720+23437A>G
XR_001741973.1:n.734+23437A>G
XR_001741974.2:n.734+23437A>G
NM_020546.3:c.720+23437A>G MANE Select NP_065433.2:n.720+23437A>G