Canonical Allele Identifier: CA114144515

Gene: ADCY2

Linked Data

• dbSNP Id: rs945660421
• gnomAD v2: 5-7530713-C-T
• gnomAD v3: 5-7530600-C-T
• gnomAD v4: 5-7530600-C-T
• MyVariant Identifiers: chr5:g.7530713C>T (hg19) ; chr5:g.7530600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7530600C>T , CM000667.2:g.7530600C>T	GRCh38
NC_000005.9:g.7530713C>T , CM000667.1:g.7530713C>T	GRCh37
NC_000005.8:g.7583713C>T	NCBI36
NG_046913.1:g.139371C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338316.9:c.570+9701C>T MANE Select	ENSP00000342952.4:n.570+9701C>T
ENST00000338316.8:c.570+9701C>T	ENSP00000342952.4:n.570+9701C>T
ENST00000498598.1:n.269+9701C>T
ENST00000537121.5:c.565+9701C>T	ENSP00000444803.2:n.565+9701C>T
NM_020546.2:c.570+9701C>T	NP_065433.2:n.570+9701C>T
XM_011513942.1:c.570+9701C>T	XP_011512244.1:n.570+9701C>T
XR_427657.2:n.584+9701C>T
XM_011513942.2:c.570+9701C>T	XP_011512244.1:n.570+9701C>T
XR_001741973.1:n.584+9701C>T
XR_001741974.2:n.584+9701C>T
NM_020546.3:c.570+9701C>T MANE Select	NP_065433.2:n.570+9701C>T