Canonical Allele Identifier: CA344925227

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235484416G>A , CM000663.2:g.235484416G>A	GRCh38
NC_000001.10:g.235647732G>A , CM000663.1:g.235647732G>A	GRCh37
NC_000001.9:g.233714355G>A	NCBI36
NG_033219.2:g.25066C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.461C>T MANE Select	NP_689703.1:p.Pro154Leu
ENST00000366600.8:c.461C>T MANE Select	ENSP00000355559.3:p.Pro154Leu
NM_001277155.2:c.584C>T	NP_001264084.1:p.Pro195Leu
NM_001277155.3:c.584C>T	NP_001264084.1:p.Pro195Leu
NM_152490.4:c.461C>T	NP_689703.1:p.Pro154Leu
ENST00000313984.3:c.584C>T	ENSP00000315678.3:p.Pro195Leu
ENST00000366600.7:c.461C>T	ENSP00000355559.3:p.Pro154Leu
ENST00000461994.1:n.255C>T
ENST00000477694.6:n.849C>T
ENST00000494378.1:n.533C>T
ENST00000612859.4:c.*81C>T	ENSP00000481548.1:n.*81C>T
ENST00000675193.1:c.584C>T	ENSP00000502069.1:p.Pro195Leu
ENST00000675555.1:c.239C>T	ENSP00000501896.1:p.Pro80Leu
ENST00000676288.1:c.584C>T	ENSP00000502392.1:p.Pro195Leu
XM_005273071.3:c.461C>T	XP_005273128.1:p.Pro154Leu
XM_006711749.2:c.461C>T	XP_006711812.1:p.Pro154Leu
XM_006711749.3:c.461C>T	XP_006711812.1:p.Pro154Leu
XM_011544096.1:c.461C>T	XP_011542398.1:p.Pro154Leu
XM_011544097.1:c.461C>T	XP_011542399.1:p.Pro154Leu
XM_017000394.1:c.584C>T	XP_016855883.1:p.Pro195Leu
XM_017000395.1:c.584C>T	XP_016855884.1:p.Pro195Leu
XR_001736987.1:n.749C>T
XR_001736988.1:n.749C>T
XR_001736989.1:n.749C>T
XR_001736990.1:n.632C>T