Canonical Allele Identifier: CA3193898
Gene: ADCY2 HGNC NCBI
COSMIC:
COSM3761325 (not active)
MyVariant.info:
GRCh38 chr5:g.7520768G>T
GRCh37 chr5:g.7520881G>T
Revel Score:
ENST00000338316 (MANE Select) 0.321
gnomAD v2:
5:7520881 G / T
gnomAD v3:
5:7520768 G / T
gnomAD v4:
chr5-7520768-G-T
Joint Max Group AF 0.24783498 (NFE)
Genomes Max Group AF 0.24229048 (NFE)
Exomes Max Group AF 0.2480066 (NFE)
dbSNP:
13166360
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7520768G>T , CM000667.2:g.7520768G>T GRCh38
NC_000005.9:g.7520881G>T , CM000667.1:g.7520881G>T GRCh37
NC_000005.8:g.7573881G>T NCBI36
NG_046913.1:g.129539G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338316.9:c.439G>T MANE Select ENSP00000342952.4:p.Val147Leu
ENST00000338316.8:c.439G>T ENSP00000342952.4:p.Val147Leu
ENST00000484965.5:n.173G>T
ENST00000498598.1:n.138G>T
ENST00000537121.5:c.439G>T ENSP00000444803.2:p.Val147Leu
NM_020546.2:c.439G>T NP_065433.2:p.Val147Leu
XM_011513942.1:c.439G>T XP_011512244.1:p.Val147Leu
XR_427657.2:n.453G>T
XM_011513942.2:c.439G>T XP_011512244.1:p.Val147Leu
XR_001741973.1:n.453G>T
XR_001741974.2:n.453G>T
NM_020546.3:c.439G>T MANE Select NP_065433.2:p.Val147Leu
Search 100 bp 5'
Search 100 bp 3'