Canonical Allele Identifier: CA39608110

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235455611A>C , CM000663.2:g.235455611A>C	GRCh38
NC_000001.10:g.235618923A>C , CM000663.1:g.235618923A>C	GRCh37
NC_000001.9:g.233685546A>C	NCBI36
NG_033219.2:g.53871T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.1099T>G MANE Select	NP_689703.1:p.Phe367Val
ENST00000366600.8:c.1099T>G MANE Select	ENSP00000355559.3:p.Phe367Val
NM_152490.4:c.1099T>G	NP_689703.1:p.Phe367Val
ENST00000366600.7:c.1099T>G	ENSP00000355559.3:p.Phe367Val
ENST00000461994.2:n.422T>G
ENST00000462374.1:n.234T>G
ENST00000477694.5:n.422T>G
ENST00000477694.6:n.1487T>G
ENST00000675193.1:c.*39T>G	ENSP00000502069.1:n.*39T>G
ENST00000675555.1:c.877T>G	ENSP00000501896.1:p.Phe293Val
ENST00000676288.1:c.1222T>G	ENSP00000502392.1:p.Phe408Val
XM_005273071.3:c.*39T>G	XP_005273128.1:n.*39T>G
XM_006711749.2:c.1099T>G	XP_006711812.1:p.Phe367Val
XM_006711749.3:c.1099T>G	XP_006711812.1:p.Phe367Val
XM_011544096.1:c.*39T>G	XP_011542398.1:n.*39T>G
XM_011544097.1:c.*29T>G	XP_011542399.1:n.*29T>G
XM_017000394.1:c.1222T>G	XP_016855883.1:p.Phe408Val
XM_017000395.1:c.1222T>G	XP_016855884.1:p.Phe408Val
XR_001736987.1:n.1203T>G
XR_001736988.1:n.1308T>G
XR_001736989.1:n.1124T>G
XR_001736990.1:n.1086T>G