Canonical Allele Identifier: CA87710492

Gene: SLC2A2

Linked Data

• dbSNP Id: rs750153487
• gnomAD v2: 3-170724786-C-G
• gnomAD v3: 3-171006997-C-G
• gnomAD v4: 3-171006997-C-G
• MyVariant Identifiers: chr3:g.170724786C>G (hg19) ; chr3:g.171006997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171006997C>G , CM000665.2:g.171006997C>G	GRCh38
NC_000003.11:g.170724786C>G , CM000665.1:g.170724786C>G	GRCh37
NC_000003.10:g.172207480C>G	NCBI36
NG_008108.1:g.24983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.612+151G>C MANE Select	ENSP00000323568.3:n.612+151G>C
ENST00000314251.7:c.612+151G>C	ENSP00000323568.3:n.612+151G>C
ENST00000461867.1:c.93+151G>C	ENSP00000418888.1:n.93+151G>C
ENST00000469787.1:c.*79+151G>C	ENSP00000417918.1:n.*79+151G>C
ENST00000471379.1:n.323+151G>C
ENST00000497642.5:c.*79+151G>C	ENSP00000418456.1:n.*79+151G>C
NM_000340.1:c.612+151G>C	NP_000331.1:n.612+151G>C
NM_001278658.1:c.255+151G>C	NP_001265587.1:n.255+151G>C
NM_001278659.1:c.93+151G>C	NP_001265588.1:n.93+151G>C
XM_011513087.1:c.567+151G>C	XP_011511389.1:n.567+151G>C
XM_011513088.1:c.393+151G>C	XP_011511390.1:n.393+151G>C
XM_011513089.1:c.93+151G>C	XP_011511391.1:n.93+151G>C
XM_011513087.2:c.567+151G>C	XP_011511389.1:n.567+151G>C
XM_024453720.1:c.93+151G>C	XP_024309488.1:n.93+151G>C
NM_000340.2:c.612+151G>C MANE Select	NP_000331.1:n.612+151G>C
NM_001278658.2:c.255+151G>C	NP_001265587.1:n.255+151G>C
NM_001278659.2:c.93+151G>C	NP_001265588.1:n.93+151G>C