Canonical Allele Identifier: CA114144517

Gene: ADCY2

Linked Data

• dbSNP Id: rs34528234
• gnomAD v2: 5-7530722-GAT-G
• gnomAD v3: 5-7530609-GAT-G
• gnomAD v4: 5-7530609-GAT-G
• MyVariant Identifiers: chr5:g.7530723_7530724del (hg19) ; chr5:g.7530610_7530611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7530613_7530614del , CM000667.2:g.7530613_7530614del	GRCh38
NC_000005.9:g.7530726_7530727del , CM000667.1:g.7530726_7530727del	GRCh37
NC_000005.8:g.7583726_7583727del	NCBI36
NG_046913.1:g.139384_139385del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338316.9:c.570+9714_570+9715del MANE Select	ENSP00000342952.4:n.570+9714_570+9715del
ENST00000338316.8:c.570+9714_570+9715del	ENSP00000342952.4:n.570+9714_570+9715del
ENST00000498598.1:n.269+9714_269+9715del
ENST00000537121.5:c.565+9714_565+9715del	ENSP00000444803.2:n.565+9714_565+9715del
NM_020546.2:c.570+9714_570+9715del	NP_065433.2:n.570+9714_570+9715del
XM_011513942.1:c.570+9714_570+9715del	XP_011512244.1:n.570+9714_570+9715del
XR_427657.2:n.584+9714_584+9715del
XM_011513942.2:c.570+9714_570+9715del	XP_011512244.1:n.570+9714_570+9715del
XR_001741973.1:n.584+9714_584+9715del
XR_001741974.2:n.584+9714_584+9715del
NM_020546.3:c.570+9714_570+9715del MANE Select	NP_065433.2:n.570+9714_570+9715del