Canonical Allele Identifier: CA346801024
Gene: SIX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1936717
dbSNP Id: rs1426126643
gnomAD v2: 2-45233404-C-T
gnomAD v3: 2-45006265-C-T
gnomAD v4: 2-45006265-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.45006265C>T , CM000664.2:g.45006265C>T GRCh38
NC_000002.11:g.45233404C>T , CM000664.1:g.45233404C>T GRCh37
NC_000002.10:g.45086908C>T NCBI36
NG_009360.1:g.8139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303077.7:c.781G>A MANE Select ENSP00000304502.6:p.Gly261Ser
ENST00000303077.6:c.781G>A ENSP00000304502.6:p.Gly261Ser
NM_016932.4:c.781G>A NP_058628.3:p.Gly261Ser
XM_005264100.2:c.787G>A XP_005264157.1:p.Gly263Ser
XM_005264100.3:c.787G>A XP_005264157.1:p.Gly263Ser
NM_016932.5:c.781G>A MANE Select NP_058628.3:p.Gly261Ser