Canonical Allele Identifier: CA814014700

Gene: ADCY2

Linked Data

• dbSNP Id: rs3073883
• gnomAD v3: 5-7650217-GACACAC-G
• gnomAD v4: 5-7650217-GACACAC-G
• MyVariant Identifiers: chr5:g.7650331_7650336del (hg19) ; chr5:g.7650218_7650223del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7650243_7650248del , CM000667.2:g.7650243_7650248del	GRCh38
NC_000005.9:g.7650356_7650361del , CM000667.1:g.7650356_7650361del	GRCh37
NC_000005.8:g.7703356_7703361del	NCBI36
NG_046913.1:g.259014_259019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338316.9:c.720+23927_720+23932del MANE Select	ENSP00000342952.4:n.720+23927_720+23932del
ENST00000338316.8:c.720+23927_720+23932del	ENSP00000342952.4:n.720+23927_720+23932del
ENST00000498598.1:n.420-7783_420-7778del
ENST00000515681.1:c.87+23927_87+23932del	ENSP00000425069.1:n.87+23927_87+23932del
ENST00000537121.5:c.714+23927_714+23932del	ENSP00000444803.2:n.714+23927_714+23932del
NM_020546.2:c.720+23927_720+23932del	NP_065433.2:n.720+23927_720+23932del
XM_011513942.1:c.720+23927_720+23932del	XP_011512244.1:n.720+23927_720+23932del
XR_427657.2:n.734+23927_734+23932del
XM_011513942.2:c.720+23927_720+23932del	XP_011512244.1:n.720+23927_720+23932del
XR_001741973.1:n.734+23927_734+23932del
XR_001741974.2:n.734+23927_734+23932del
NM_020546.3:c.720+23927_720+23932del MANE Select	NP_065433.2:n.720+23927_720+23932del