Canonical Allele Identifier: CA359164094

Gene: ADCY2

Linked Data

• dbSNP Id: rs1744416659
• gnomAD v3: 5-7520808-T-C
• gnomAD v4: 5-7520808-T-C
• MyVariant Identifiers: chr5:g.7520921T>C (hg19) ; chr5:g.7520808T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7520808T>C , CM000667.2:g.7520808T>C	GRCh38
NC_000005.9:g.7520921T>C , CM000667.1:g.7520921T>C	GRCh37
NC_000005.8:g.7573921T>C	NCBI36
NG_046913.1:g.129579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338316.9:c.479T>C MANE Select	ENSP00000342952.4:p.Ile160Thr
ENST00000338316.8:c.479T>C	ENSP00000342952.4:p.Ile160Thr
ENST00000484965.5:n.213T>C
ENST00000498598.1:n.178T>C
ENST00000537121.5:c.479T>C	ENSP00000444803.2:p.Ile160Thr
NM_020546.2:c.479T>C	NP_065433.2:p.Ile160Thr
XM_011513942.1:c.479T>C	XP_011512244.1:p.Ile160Thr
XR_427657.2:n.493T>C
XM_011513942.2:c.479T>C	XP_011512244.1:p.Ile160Thr
XR_001741973.1:n.493T>C
XR_001741974.2:n.493T>C
NM_020546.3:c.479T>C MANE Select	NP_065433.2:p.Ile160Thr