Canonical Allele Identifier: CA547970486

Gene: SLC2A2

Linked Data

• dbSNP Id: rs1169420138
• gnomAD v2: 3-170717469-TA-T
• gnomAD v3: 3-170999680-TA-T
• gnomAD v4: 3-170999680-TA-T
• MyVariant Identifiers: chr3:g.170717470del (hg19) ; chr3:g.170999681del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170999682del , CM000665.2:g.170999682del	GRCh38
NC_000003.11:g.170717471del , CM000665.1:g.170717471del	GRCh37
NC_000003.10:g.172200165del	NCBI36
NG_008108.1:g.32299del

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.1069-515del MANE Select	ENSP00000323568.3:n.1069-515del
ENST00000314251.7:c.1069-515del	ENSP00000323568.3:n.1069-515del
ENST00000469787.1:c.*536-515del	ENSP00000417918.1:n.*536-515del
ENST00000497642.5:c.*536-515del	ENSP00000418456.1:n.*536-515del
NM_000340.1:c.1069-515del	NP_000331.1:n.1069-515del
NM_001278658.1:c.712-515del	NP_001265587.1:n.712-515del
NM_001278659.1:c.550-515del	NP_001265588.1:n.550-515del
XM_011513087.1:c.1024-515del	XP_011511389.1:n.1024-515del
XM_011513088.1:c.850-515del	XP_011511390.1:n.850-515del
XM_011513089.1:c.550-515del	XP_011511391.1:n.550-515del
XM_011513087.2:c.1024-515del	XP_011511389.1:n.1024-515del
XM_024453720.1:c.550-515del	XP_024309488.1:n.550-515del
NM_000340.2:c.1069-515del MANE Select	NP_000331.1:n.1069-515del
NM_001278658.2:c.712-515del	NP_001265587.1:n.712-515del
NM_001278659.2:c.550-515del	NP_001265588.1:n.550-515del