Canonical Allele Identifier: CA15362175
Gene: ADCY2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.7528445T>C
GRCh37 chr5:g.7528558T>C
gnomAD v2:
5:7528558 T / C
gnomAD v3:
5:7528445 T / C
gnomAD v4:
chr5-7528445-T-C
Joint Max Group AF 0.67092146 (NFE)
Genomes Max Group AF 0.67092146 (NFE)
dbSNP:
4702473
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7528445T>C , CM000667.2:g.7528445T>C GRCh38
NC_000005.9:g.7528558T>C , CM000667.1:g.7528558T>C GRCh37
NC_000005.8:g.7581558T>C NCBI36
NG_046913.1:g.137216T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338316.9:c.570+7546T>C MANE Select ENSP00000342952.4:n.570+7546T>C
ENST00000338316.8:c.570+7546T>C ENSP00000342952.4:n.570+7546T>C
ENST00000498598.1:n.269+7546T>C
ENST00000537121.5:c.565+7546T>C ENSP00000444803.2:n.565+7546T>C
NM_020546.2:c.570+7546T>C NP_065433.2:n.570+7546T>C
XM_011513942.1:c.570+7546T>C XP_011512244.1:n.570+7546T>C
XR_427657.2:n.584+7546T>C
XM_011513942.2:c.570+7546T>C XP_011512244.1:n.570+7546T>C
XR_001741973.1:n.584+7546T>C
XR_001741974.2:n.584+7546T>C
NM_020546.3:c.570+7546T>C MANE Select NP_065433.2:n.570+7546T>C
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