Canonical Allele Identifier: CA1072974048
Gene: ADCY2 HGNC NCBI

Linked Data

dbSNP Id: rs1739024408
gnomAD v3: 5-7649815-G-A
gnomAD v4: 5-7649815-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7649815G>A , CM000667.2:g.7649815G>A GRCh38
NC_000005.9:g.7649928G>A , CM000667.1:g.7649928G>A GRCh37
NC_000005.8:g.7702928G>A NCBI36
NG_046913.1:g.258586G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338316.9:c.720+23499G>A MANE Select ENSP00000342952.4:n.720+23499G>A
ENST00000338316.8:c.720+23499G>A ENSP00000342952.4:n.720+23499G>A
ENST00000498598.1:n.420-8211G>A
ENST00000515681.1:c.87+23499G>A ENSP00000425069.1:n.87+23499G>A
ENST00000537121.5:c.714+23499G>A ENSP00000444803.2:n.714+23499G>A
NM_020546.2:c.720+23499G>A NP_065433.2:n.720+23499G>A
XM_011513942.1:c.720+23499G>A XP_011512244.1:n.720+23499G>A
XR_427657.2:n.734+23499G>A
XM_011513942.2:c.720+23499G>A XP_011512244.1:n.720+23499G>A
XR_001741973.1:n.734+23499G>A
XR_001741974.2:n.734+23499G>A
NM_020546.3:c.720+23499G>A MANE Select NP_065433.2:n.720+23499G>A