Canonical Allele Identifier: CA320384808
Gene: SIM2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36731106G>A , CM000683.2:g.36731106G>A GRCh38
NC_000021.8:g.38103407G>A , CM000683.1:g.38103407G>A GRCh37
NC_000021.7:g.37025277G>A NCBI36
NG_029519.1:g.36417G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290399.11:c.805G>A MANE Select ENSP00000290399.6:p.Val269Met
ENST00000290399.10:c.805G>A ENSP00000290399.6:p.Val269Met
ENST00000431229.1:c.617G>A
ENST00000481185.1:n.1418G>A
NM_005069.4:c.805G>A NP_005060.1:p.Val269Met
NM_009586.3:c.805G>A NP_033664.2:p.Val269Met
XM_011529694.1:c.502G>A XP_011527996.1:p.Val168Met
XM_011529695.1:c.400G>A XP_011527997.1:p.Val134Met
NM_005069.5:c.805G>A NP_005060.1:p.Val269Met
NM_009586.4:c.805G>A NP_033664.2:p.Val269Met
XM_017028442.2:c.805G>A XP_016883931.1:p.Val269Met
XR_001754891.2:n.1435G>A
NM_005069.6:c.805G>A MANE Select NP_005060.1:p.Val269Met
NM_009586.5:c.805G>A NP_033664.2:p.Val269Met