Canonical Allele Identifier: CA1642475

Gene: SIX2

Linked Data

• ClinVar Variation Id: 2049063
• ClinVar RCV Id: RCV002909510
• dbSNP Id: rs140763514
• ExAC: 2:45233421 A / G
• gnomAD v2: 2-45233421-A-G
• gnomAD v3: 2-45006282-A-G
• gnomAD v4: 2-45006282-A-G
• MyVariant Identifiers: chr2:g.45233421A>G (hg19) ; chr2:g.45006282A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.45006282A>G , CM000664.2:g.45006282A>G	GRCh38
NC_000002.11:g.45233421A>G , CM000664.1:g.45233421A>G	GRCh37
NC_000002.10:g.45086925A>G	NCBI36
NG_009360.1:g.8122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303077.7:c.764T>C MANE Select	ENSP00000304502.6:p.Val255Ala
ENST00000303077.6:c.764T>C	ENSP00000304502.6:p.Val255Ala
NM_016932.4:c.764T>C	NP_058628.3:p.Val255Ala
XM_005264100.2:c.770T>C	XP_005264157.1:p.Val257Ala
XM_005264100.3:c.770T>C	XP_005264157.1:p.Val257Ala
NM_016932.5:c.764T>C MANE Select	NP_058628.3:p.Val255Ala