Canonical Allele Identifier: CA2740092153

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 2663778
• ClinVar RCV Id: RCV003885329

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904983_48904994dup , CM000685.2:g.48904983_48904994dup	GRCh38
NC_000023.10:g.48762260_48762271dup , CM000685.1:g.48762260_48762271dup	GRCh37
NC_000023.9:g.48647204_48647215dup	NCBI36
NG_015967.1:g.12066_12077dup
NG_034300.1:g.11968_11979dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.918_929dup MANE Select	ENSP00000247138.5:p.Val310_Ala311insLeuSerThrVal
ENST00000247138.10:c.918_929dup	ENSP00000247138.5:p.Val310_Ala311insLeuSerThrVal
ENST00000376515.8:c.355-99_355-88dup	ENSP00000365698.3:n.355-99_355-88dup
ENST00000376521.6:c.918_929dup	ENSP00000365704.1:p.Val310_Ala311insLeuSerThrVal
ENST00000376529.8:c.427-99_427-88dup	ENSP00000365712.3:n.427-99_427-88dup
ENST00000413561.7:c.480_491dup
ENST00000445167.7:c.427-99_427-88dup	ENSP00000402726.2:n.427-99_427-88dup
ENST00000452555.7:c.1002_1013dup	ENSP00000416002.2:p.Val338_Ala339insLeuSerThrVal
ENST00000616181.5:c.957_968dup	ENSP00000478617.1:p.Val323_Ala324insLeuSerThrVal
ENST00000635285.1:c.918_929dup	ENSP00000489484.1:p.Val310_Ala311insLeuSerThrVal
ENST00000635460.1:c.424+1401_424+1412dup
ENST00000635589.1:c.735_746dup	ENSP00000489197.1:p.Val249_Ala250insLeuSerThrVal
ENST00000635628.1:c.*812_*823dup	ENSP00000489613.1:n.*812_*823dup
NM_001032289.2:c.427-99_427-88dup	NP_001027460.1:n.427-99_427-88dup
NM_001042498.2:c.918_929dup	NP_001035963.1:p.Val310_Ala311insLeuSerThrVal
NM_001282647.1:c.427-99_427-88dup	NP_001269576.1:n.427-99_427-88dup
NM_001282648.1:c.355-99_355-88dup	NP_001269577.1:n.355-99_355-88dup
NM_001282649.1:c.735_746dup	NP_001269578.1:p.Val249_Ala250insLeuSerThrVal
NM_001282650.1:c.957_968dup	NP_001269579.1:p.Val323_Ala324insLeuSerThrVal
NM_001282651.1:c.1002_1013dup	NP_001269580.1:p.Val338_Ala339insLeuSerThrVal
NM_005660.2:c.918_929dup	NP_005651.1:p.Val310_Ala311insLeuSerThrVal
NM_005660.3:c.918_929dup MANE Select	NP_005651.1:p.Val310_Ala311insLeuSerThrVal
NM_001032289.3:c.427-99_427-88dup	NP_001027460.1:n.427-99_427-88dup
NM_001042498.3:c.918_929dup	NP_001035963.1:p.Val310_Ala311insLeuSerThrVal
NM_001282647.2:c.427-99_427-88dup	NP_001269576.1:n.427-99_427-88dup
NM_001282649.2:c.735_746dup	NP_001269578.1:p.Val249_Ala250insLeuSerThrVal
NM_001282650.2:c.957_968dup	NP_001269579.1:p.Val323_Ala324insLeuSerThrVal
NM_001282651.2:c.1002_1013dup	NP_001269580.1:p.Val338_Ala339insLeuSerThrVal
NM_001282648.2:c.355-99_355-88dup	NP_001269577.1:n.355-99_355-88dup