Canonical Allele Identifier: CA114172984
Gene: ADCY2 HGNC NCBI

Linked Data

dbSNP Id: rs957218169
gnomAD v2: 5-7649870-T-C
gnomAD v3: 5-7649757-T-C
gnomAD v4: 5-7649757-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7649757T>C , CM000667.2:g.7649757T>C GRCh38
NC_000005.9:g.7649870T>C , CM000667.1:g.7649870T>C GRCh37
NC_000005.8:g.7702870T>C NCBI36
NG_046913.1:g.258528T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000338316.9:c.720+23441T>C MANE Select ENSP00000342952.4:n.720+23441T>C
ENST00000338316.8:c.720+23441T>C ENSP00000342952.4:n.720+23441T>C
ENST00000498598.1:n.420-8269T>C
ENST00000515681.1:c.87+23441T>C ENSP00000425069.1:n.87+23441T>C
ENST00000537121.5:c.714+23441T>C ENSP00000444803.2:n.714+23441T>C
NM_020546.2:c.720+23441T>C NP_065433.2:n.720+23441T>C
XM_011513942.1:c.720+23441T>C XP_011512244.1:n.720+23441T>C
XR_427657.2:n.734+23441T>C
XM_011513942.2:c.720+23441T>C XP_011512244.1:n.720+23441T>C
XR_001741973.1:n.734+23441T>C
XR_001741974.2:n.734+23441T>C
NM_020546.3:c.720+23441T>C MANE Select NP_065433.2:n.720+23441T>C