Canonical Allele Identifier: CA2580060792

Linked Data

ClinVar Variation Id: 2010240
ClinVar RCV Id: RCV002850980

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109608625T>C , CM000663.2:g.109608625T>C GRCh38
NC_000001.10:g.110151247T>C , CM000663.1:g.110151247T>C GRCh37
NC_000001.9:g.109952770T>C NCBI36
NG_009099.1:g.9459A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351050.8:c.461+6A>G (GNAT2) ENSP00000251337.3:n.461+6A>G
ENST00000679935.1:c.461+6A>G (GNAT2) MANE Select ENSP00000505083.1:n.461+6A>G
ENST00000351050.7:c.461+6A>G (GNAT2) ENSP00000251337.3:n.461+6A>G
ENST00000369851.5:c.*16303T>C (GNAI3) ENSP00000358867.4:n.*16303T>C
NM_005272.3:c.461+6A>G (GNAT2) NP_005263.1:n.461+6A>G
XM_011541264.1:c.461+6A>G (GNAT2) XP_011539566.1:n.461+6A>G
XM_011541265.1:c.461+6A>G (GNAT2) XP_011539567.1:n.461+6A>G
XM_011541266.1:c.461+6A>G (GNAT2) XP_011539568.1:n.461+6A>G
XM_011541264.2:c.461+6A>G (GNAT2) XP_011539566.1:n.461+6A>G
NM_001377295.1:c.461+6A>G (GNAT2) NP_001364224.1:n.461+6A>G
NM_005272.5:c.461+6A>G (GNAT2) NP_005263.1:n.461+6A>G
NM_001377295.2:c.461+6A>G (GNAT2) MANE Select NP_001364224.1:n.461+6A>G
NM_001379232.1:c.461+6A>G (GNAT2) NP_001366161.1:n.461+6A>G