Canonical Allele Identifier: CA114172950

Gene: ADCY2

Linked Data

• dbSNP Id: rs183668254
• gnomAD v2: 5-7649716-T-C
• gnomAD v3: 5-7649603-T-C
• gnomAD v4: 5-7649603-T-C
• MyVariant Identifiers: chr5:g.7649716T>C (hg19) ; chr5:g.7649603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7649603T>C , CM000667.2:g.7649603T>C	GRCh38
NC_000005.9:g.7649716T>C , CM000667.1:g.7649716T>C	GRCh37
NC_000005.8:g.7702716T>C	NCBI36
NG_046913.1:g.258374T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338316.9:c.720+23287T>C MANE Select	ENSP00000342952.4:n.720+23287T>C
ENST00000338316.8:c.720+23287T>C	ENSP00000342952.4:n.720+23287T>C
ENST00000498598.1:n.420-8423T>C
ENST00000515681.1:c.87+23287T>C	ENSP00000425069.1:n.87+23287T>C
ENST00000537121.5:c.714+23287T>C	ENSP00000444803.2:n.714+23287T>C
NM_020546.2:c.720+23287T>C	NP_065433.2:n.720+23287T>C
XM_011513942.1:c.720+23287T>C	XP_011512244.1:n.720+23287T>C
XR_427657.2:n.734+23287T>C
XM_011513942.2:c.720+23287T>C	XP_011512244.1:n.720+23287T>C
XR_001741973.1:n.734+23287T>C
XR_001741974.2:n.734+23287T>C
NM_020546.3:c.720+23287T>C MANE Select	NP_065433.2:n.720+23287T>C