Canonical Allele Identifier: CA232337

Gene: ADCY2

Linked Data

• ClinVar Variation Id: 92006
• ClinVar RCV Id: RCV000122563
• dbSNP Id: rs386352276
• COSMIC: COSM1717701
• MyVariant Identifiers: chr5:g.7520931C>G (hg19) ; chr5:g.7520818C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7520818C>G , CM000667.2:g.7520818C>G	GRCh38
NC_000005.9:g.7520931C>G , CM000667.1:g.7520931C>G	GRCh37
NC_000005.8:g.7573931C>G	NCBI36
NG_046913.1:g.129589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338316.9:c.489C>G MANE Select	ENSP00000342952.4:p.Val163=
ENST00000338316.8:c.489C>G	ENSP00000342952.4:p.Val163=
ENST00000484965.5:n.223C>G
ENST00000498598.1:n.188C>G
ENST00000537121.5:c.489C>G	ENSP00000444803.2:p.Val163=
NM_020546.2:c.489C>G	NP_065433.2:p.Val163=
XM_011513942.1:c.489C>G	XP_011512244.1:p.Val163=
XR_427657.2:n.503C>G
XM_011513942.2:c.489C>G	XP_011512244.1:p.Val163=
XR_001741973.1:n.503C>G
XR_001741974.2:n.503C>G
NM_020546.3:c.489C>G MANE Select	NP_065433.2:p.Val163=