Canonical Allele Identifier: CA814016487

Gene: ADCY2

Linked Data

• dbSNP Id: rs1486073485
• gnomAD v3: 5-7617130-GTGTTC-G
• gnomAD v4: 5-7617130-GTGTTC-G
• MyVariant Identifiers: chr5:g.7617244_7617248del (hg19) ; chr5:g.7617131_7617135del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7617133_7617137del , CM000667.2:g.7617133_7617137del	GRCh38
NC_000005.9:g.7617246_7617250del , CM000667.1:g.7617246_7617250del	GRCh37
NC_000005.8:g.7670246_7670250del	NCBI36
NG_046913.1:g.225904_225908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338316.9:c.571-9034_571-9030del MANE Select	ENSP00000342952.4:n.571-9034_571-9030del
ENST00000338316.8:c.571-9034_571-9030del	ENSP00000342952.4:n.571-9034_571-9030del
ENST00000498598.1:n.270-9034_270-9030del
ENST00000515681.1:c.-64+5958_-64+5962del	ENSP00000425069.1:n.-64+5958_-64+5962del
ENST00000537121.5:c.566-9034_566-9030del	ENSP00000444803.2:n.566-9034_566-9030del
NM_020546.2:c.571-9034_571-9030del	NP_065433.2:n.571-9034_571-9030del
XM_011513942.1:c.571-9034_571-9030del	XP_011512244.1:n.571-9034_571-9030del
XR_427657.2:n.585-9034_585-9030del
XM_011513942.2:c.571-9034_571-9030del	XP_011512244.1:n.571-9034_571-9030del
XR_001741973.1:n.585-9034_585-9030del
XR_001741974.2:n.585-9034_585-9030del
NM_020546.3:c.571-9034_571-9030del MANE Select	NP_065433.2:n.571-9034_571-9030del