Canonical Allele Identifier: CA231753

Gene: B3GALNT2

Linked Data

• ClinVar Variation Id: 132981
• ClinVar RCV Id: RCV000119390 ; RCV000625390
• dbSNP Id: rs367543075
• ExAC: 1:235628968 T / TAA
• gnomAD v2: 1-235628968-T-TAA
• gnomAD v3: 1-235465651-T-TAA
• gnomAD v4: 1-235465651-T-TAA
• MyVariant Identifiers: chr1:g.235628969_235628970dupAA (hg19) ; chr1:g.235628968_235628969insAA (hg19) ; chr1:g.235465652_235465653dupAA (hg38) ; chr1:g.235465651_235465652insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235465654_235465655dup , CM000663.2:g.235465654_235465655dup	GRCh38
NC_000001.10:g.235628971_235628972dup , CM000663.1:g.235628971_235628972dup	GRCh37
NC_000001.9:g.233695594_233695595dup	NCBI36
NG_033219.2:g.43829_43830dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461994.2:n.147_148dup
ENST00000366600.8:c.824_825dup MANE Select	ENSP00000355559.3:p.Ile276LeufsTer26
ENST00000477694.6:n.1212_1213dup
ENST00000675193.1:c.947_948dup	ENSP00000502069.1:p.Ile317LeufsTer26
ENST00000675555.1:c.602_603dup	ENSP00000501896.1:p.Ile202LeufsTer26
ENST00000676288.1:c.947_948dup	ENSP00000502392.1:p.Ile317LeufsTer26
ENST00000313984.3:c.947_948dup	ENSP00000315678.3:p.Ile317LeufsTer14
ENST00000366600.7:c.824_825dup	ENSP00000355559.3:p.Ile276LeufsTer26
ENST00000462374.1:n.143_144dup
ENST00000477694.5:n.147_148dup
ENST00000612859.4:c.*444_*445dup	ENSP00000481548.1:n.*444_*445dup
NM_001277155.2:c.947_948dup	NP_001264084.1:p.Ile317LeufsTer14
NM_152490.4:c.824_825dup	NP_689703.1:p.Ile276LeufsTer26
XM_005273071.3:c.824_825dup	XP_005273128.1:p.Ile276LeufsTer21
XM_006711749.2:c.824_825dup	XP_006711812.1:p.Ile276LeufsTer26
XM_011544096.1:c.824_825dup	XP_011542398.1:p.Ile276LeufsTer26
XM_011544097.1:c.762+5197_762+5198dup	XP_011542399.1:n.762+5197_762+5198dup
XM_006711749.3:c.824_825dup	XP_006711812.1:p.Ile276LeufsTer26
XM_017000394.1:c.947_948dup	XP_016855883.1:p.Ile317LeufsTer26
XM_017000395.1:c.947_948dup	XP_016855884.1:p.Ile317LeufsTer26
XR_001736987.1:n.1112_1113dup
XR_001736988.1:n.1050+5197_1050+5198dup
XR_001736989.1:n.1050+5197_1050+5198dup
XR_001736990.1:n.995_996dup
NM_152490.5:c.824_825dup MANE Select	NP_689703.1:p.Ile276LeufsTer26
NM_001277155.3:c.947_948dup	NP_001264084.1:p.Ile317LeufsTer14