Canonical Allele Identifier: CA114173101

Gene: ADCY2

Linked Data

• dbSNP Id: rs3073883
• gnomAD v2: 5-7650330-G-GACACACACAC
• gnomAD v3: 5-7650217-G-GACACACACAC
• gnomAD v4: 5-7650217-G-GACACACACAC
• MyVariant Identifiers: chr5:g.7650334_7650335insACACACACAC (hg19) ; chr5:g.7650330_7650331insACACACACAC (hg19) ; chr5:g.7650221_7650222insACACACACAC (hg38) ; chr5:g.7650217_7650218insACACACACAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7650239_7650248dup , CM000667.2:g.7650239_7650248dup	GRCh38
NC_000005.9:g.7650352_7650361dup , CM000667.1:g.7650352_7650361dup	GRCh37
NC_000005.8:g.7703352_7703361dup	NCBI36
NG_046913.1:g.259010_259019dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338316.9:c.720+23923_720+23932dup MANE Select	ENSP00000342952.4:n.720+23923_720+23932dup
ENST00000338316.8:c.720+23923_720+23932dup	ENSP00000342952.4:n.720+23923_720+23932dup
ENST00000498598.1:n.420-7787_420-7778dup
ENST00000515681.1:c.87+23923_87+23932dup	ENSP00000425069.1:n.87+23923_87+23932dup
ENST00000537121.5:c.714+23923_714+23932dup	ENSP00000444803.2:n.714+23923_714+23932dup
NM_020546.2:c.720+23923_720+23932dup	NP_065433.2:n.720+23923_720+23932dup
XM_011513942.1:c.720+23923_720+23932dup	XP_011512244.1:n.720+23923_720+23932dup
XR_427657.2:n.734+23923_734+23932dup
XM_011513942.2:c.720+23923_720+23932dup	XP_011512244.1:n.720+23923_720+23932dup
XR_001741973.1:n.734+23923_734+23932dup
XR_001741974.2:n.734+23923_734+23932dup
NM_020546.3:c.720+23923_720+23932dup MANE Select	NP_065433.2:n.720+23923_720+23932dup