Canonical Allele Identifier: CA359164023
Gene: ADCY2 HGNC NCBI

Linked Data

gnomAD v4: 5-7520775-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7520775C>A , CM000667.2:g.7520775C>A GRCh38
NC_000005.9:g.7520888C>A , CM000667.1:g.7520888C>A GRCh37
NC_000005.8:g.7573888C>A NCBI36
NG_046913.1:g.129546C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338316.9:c.446C>A MANE Select ENSP00000342952.4:p.Thr149Asn
ENST00000338316.8:c.446C>A ENSP00000342952.4:p.Thr149Asn
ENST00000484965.5:n.180C>A
ENST00000498598.1:n.145C>A
ENST00000537121.5:c.446C>A ENSP00000444803.2:p.Thr149Asn
NM_020546.2:c.446C>A NP_065433.2:p.Thr149Asn
XM_011513942.1:c.446C>A XP_011512244.1:p.Thr149Asn
XR_427657.2:n.460C>A
XM_011513942.2:c.446C>A XP_011512244.1:p.Thr149Asn
XR_001741973.1:n.460C>A
XR_001741974.2:n.460C>A
NM_020546.3:c.446C>A MANE Select NP_065433.2:p.Thr149Asn