Canonical Allele Identifier: CA114144528

Gene: ADCY2

Linked Data

• dbSNP Id: rs953913078
• gnomAD v2: 5-7530861-G-A
• gnomAD v3: 5-7530748-G-A
• gnomAD v4: 5-7530748-G-A
• MyVariant Identifiers: chr5:g.7530861G>A (hg19) ; chr5:g.7530748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7530748G>A , CM000667.2:g.7530748G>A	GRCh38
NC_000005.9:g.7530861G>A , CM000667.1:g.7530861G>A	GRCh37
NC_000005.8:g.7583861G>A	NCBI36
NG_046913.1:g.139519G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338316.9:c.570+9849G>A MANE Select	ENSP00000342952.4:n.570+9849G>A
ENST00000338316.8:c.570+9849G>A	ENSP00000342952.4:n.570+9849G>A
ENST00000498598.1:n.269+9849G>A
ENST00000537121.5:c.565+9849G>A	ENSP00000444803.2:n.565+9849G>A
NM_020546.2:c.570+9849G>A	NP_065433.2:n.570+9849G>A
XM_011513942.1:c.570+9849G>A	XP_011512244.1:n.570+9849G>A
XR_427657.2:n.584+9849G>A
XM_011513942.2:c.570+9849G>A	XP_011512244.1:n.570+9849G>A
XR_001741973.1:n.584+9849G>A
XR_001741974.2:n.584+9849G>A
NM_020546.3:c.570+9849G>A MANE Select	NP_065433.2:n.570+9849G>A