Canonical Allele Identifier: CA2673183132

Gene: ADCY2

Linked Data

• gnomAD v4: 5-7520849-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7520850del , CM000667.2:g.7520850del	GRCh38
NC_000005.9:g.7520963del , CM000667.1:g.7520963del	GRCh37
NC_000005.8:g.7573963del	NCBI36
NG_046913.1:g.129621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338316.9:c.521del MANE Select	ENSP00000342952.4:p.Ser174ThrfsTer22
ENST00000338316.8:c.521del	ENSP00000342952.4:p.Ser174ThrfsTer22
ENST00000484965.5:n.255del
ENST00000498598.1:n.220del
ENST00000537121.5:c.521del	ENSP00000444803.2:p.Ser174ThrfsTer?
NM_020546.2:c.521del	NP_065433.2:p.Ser174ThrfsTer22
XM_011513942.1:c.521del	XP_011512244.1:p.Ser174ThrfsTer22
XR_427657.2:n.535del
XM_011513942.2:c.521del	XP_011512244.1:p.Ser174ThrfsTer22
XR_001741973.1:n.535del
XR_001741974.2:n.535del
NM_020546.3:c.521del MANE Select	NP_065433.2:p.Ser174ThrfsTer22