Canonical Allele Identifier: CA1642496

Gene: SIX2

Linked Data

• ClinVar Variation Id: 2183703
• ClinVar RCV Id: RCV002599747
• dbSNP Id: rs148356487
• ExAC: 2:45233491 G / T
• gnomAD v2: 2-45233491-G-T
• gnomAD v3: 2-45006352-G-T
• gnomAD v4: 2-45006352-G-T
• MyVariant Identifiers: chr2:g.45233491G>T (hg19) ; chr2:g.45006352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.45006352G>T , CM000664.2:g.45006352G>T	GRCh38
NC_000002.11:g.45233491G>T , CM000664.1:g.45233491G>T	GRCh37
NC_000002.10:g.45086995G>T	NCBI36
NG_009360.1:g.8052C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303077.7:c.694C>A MANE Select	ENSP00000304502.6:p.Leu232Ile
ENST00000303077.6:c.694C>A	ENSP00000304502.6:p.Leu232Ile
NM_016932.4:c.694C>A	NP_058628.3:p.Leu232Ile
XM_005264100.2:c.700C>A	XP_005264157.1:p.Leu234Ile
XM_005264100.3:c.700C>A	XP_005264157.1:p.Leu234Ile
NM_016932.5:c.694C>A MANE Select	NP_058628.3:p.Leu232Ile