Canonical Allele Identifier: CA814014280

Gene: ADCY2

Linked Data

• dbSNP Id: rs1475914931
• gnomAD v3: 5-7649787-AAAAC-A
• gnomAD v4: 5-7649787-AAAAC-A
• MyVariant Identifiers: chr5:g.7649901_7649904del (hg19) ; chr5:g.7649788_7649791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7649789_7649792del , CM000667.2:g.7649789_7649792del	GRCh38
NC_000005.9:g.7649902_7649905del , CM000667.1:g.7649902_7649905del	GRCh37
NC_000005.8:g.7702902_7702905del	NCBI36
NG_046913.1:g.258560_258563del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338316.9:c.720+23473_720+23476del MANE Select	ENSP00000342952.4:n.720+23473_720+23476de...
ENST00000338316.8:c.720+23473_720+23476del	ENSP00000342952.4:n.720+23473_720+23476de...
ENST00000498598.1:n.420-8237_420-8234del
ENST00000515681.1:c.87+23473_87+23476del	ENSP00000425069.1:n.87+23473_87+23476del
ENST00000537121.5:c.714+23473_714+23476del	ENSP00000444803.2:n.714+23473_714+23476de...
NM_020546.2:c.720+23473_720+23476del	NP_065433.2:n.720+23473_720+23476del
XM_011513942.1:c.720+23473_720+23476del	XP_011512244.1:n.720+23473_720+23476del
XR_427657.2:n.734+23473_734+23476del
XM_011513942.2:c.720+23473_720+23476del	XP_011512244.1:n.720+23473_720+23476del
XR_001741973.1:n.734+23473_734+23476del
XR_001741974.2:n.734+23473_734+23476del
NM_020546.3:c.720+23473_720+23476del MANE Select	NP_065433.2:n.720+23473_720+23476del