Canonical Allele Identifier: CA344957775

Gene: B3GALNT2

Linked Data

• ClinVar Variation Id: 473879
• ClinVar RCV Id: RCV000531674
• dbSNP Id: rs1553342963
• MyVariant Identifiers: chr1:g.235618914T>A (hg19) ; chr1:g.235455602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235455602T>A , CM000663.2:g.235455602T>A	GRCh38
NC_000001.10:g.235618914T>A , CM000663.1:g.235618914T>A	GRCh37
NC_000001.9:g.233685537T>A	NCBI36
NG_033219.2:g.53880A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461994.2:n.431A>T
ENST00000366600.8:c.1108A>T MANE Select	ENSP00000355559.3:p.Ile370Phe
ENST00000477694.6:n.1496A>T
ENST00000675193.1:c.*48A>T	ENSP00000502069.1:n.*48A>T
ENST00000675555.1:c.886A>T	ENSP00000501896.1:p.Ile296Phe
ENST00000676288.1:c.1231A>T	ENSP00000502392.1:p.Ile411Phe
ENST00000366600.7:c.1108A>T	ENSP00000355559.3:p.Ile370Phe
ENST00000462374.1:n.243A>T
ENST00000477694.5:n.431A>T
NM_152490.4:c.1108A>T	NP_689703.1:p.Ile370Phe
XM_005273071.3:c.*48A>T	XP_005273128.1:n.*48A>T
XM_006711749.2:c.1108A>T	XP_006711812.1:p.Ile370Phe
XM_011544096.1:c.*48A>T	XP_011542398.1:n.*48A>T
XM_011544097.1:c.*38A>T	XP_011542399.1:n.*38A>T
XM_006711749.3:c.1108A>T	XP_006711812.1:p.Ile370Phe
XM_017000394.1:c.1231A>T	XP_016855883.1:p.Ile411Phe
XM_017000395.1:c.1231A>T	XP_016855884.1:p.Ile411Phe
XR_001736987.1:n.1212A>T
XR_001736988.1:n.1317A>T
XR_001736989.1:n.1133A>T
XR_001736990.1:n.1095A>T
NM_152490.5:c.1108A>T MANE Select	NP_689703.1:p.Ile370Phe