Canonical Allele Identifier: CA557852301

Gene: ADCY2

Linked Data

• dbSNP Id: rs1194395730
• gnomAD v2: 5-7517246-C-G
• gnomAD v3: 5-7517133-C-G
• gnomAD v4: 5-7517133-C-G
• MyVariant Identifiers: chr5:g.7517246C>G (hg19) ; chr5:g.7517133C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7517133C>G , CM000667.2:g.7517133C>G	GRCh38
NC_000005.9:g.7517246C>G , CM000667.1:g.7517246C>G	GRCh37
NC_000005.8:g.7570246C>G	NCBI36
NG_046913.1:g.125904C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338316.9:c.409-3605C>G MANE Select	ENSP00000342952.4:n.409-3605C>G
ENST00000338316.8:c.409-3605C>G	ENSP00000342952.4:n.409-3605C>G
ENST00000484965.5:n.143-3605C>G
ENST00000498598.1:n.108-3605C>G
ENST00000537121.5:c.409-3605C>G	ENSP00000444803.2:n.409-3605C>G
NM_020546.2:c.409-3605C>G	NP_065433.2:n.409-3605C>G
XM_011513942.1:c.409-3605C>G	XP_011512244.1:n.409-3605C>G
XR_427657.2:n.423-3605C>G
XM_011513942.2:c.409-3605C>G	XP_011512244.1:n.409-3605C>G
XR_001741973.1:n.423-3605C>G
XR_001741974.2:n.423-3605C>G
NM_020546.3:c.409-3605C>G MANE Select	NP_065433.2:n.409-3605C>G