Canonical Allele Identifier: CA2574159670

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235484316G>A , CM000663.2:g.235484316G>A	GRCh38
NC_000001.10:g.235647632G>A , CM000663.1:g.235647632G>A	GRCh37
NC_000001.9:g.233714255G>A	NCBI36
NG_033219.2:g.25166C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.555+6C>T MANE Select	NP_689703.1:n.555+6C>T
ENST00000366600.8:c.555+6C>T MANE Select	ENSP00000355559.3:n.555+6C>T
NM_001277155.2:c.678+6C>T	NP_001264084.1:n.678+6C>T
NM_001277155.3:c.678+6C>T	NP_001264084.1:n.678+6C>T
NM_152490.4:c.555+6C>T	NP_689703.1:n.555+6C>T
ENST00000313984.3:c.678+6C>T	ENSP00000315678.3:n.678+6C>T
ENST00000366600.7:c.555+6C>T	ENSP00000355559.3:n.555+6C>T
ENST00000461994.1:n.349+6C>T
ENST00000477694.6:n.943+6C>T
ENST00000494378.1:n.627+6C>T
ENST00000612859.4:c.*175+6C>T	ENSP00000481548.1:n.*175+6C>T
ENST00000675193.1:c.678+6C>T	ENSP00000502069.1:n.678+6C>T
ENST00000675555.1:c.333+6C>T	ENSP00000501896.1:n.333+6C>T
ENST00000676288.1:c.678+6C>T	ENSP00000502392.1:n.678+6C>T
XM_005273071.3:c.555+6C>T	XP_005273128.1:n.555+6C>T
XM_006711749.2:c.555+6C>T	XP_006711812.1:n.555+6C>T
XM_006711749.3:c.555+6C>T	XP_006711812.1:n.555+6C>T
XM_011544096.1:c.555+6C>T	XP_011542398.1:n.555+6C>T
XM_011544097.1:c.555+6C>T	XP_011542399.1:n.555+6C>T
XM_017000394.1:c.678+6C>T	XP_016855883.1:n.678+6C>T
XM_017000395.1:c.678+6C>T	XP_016855884.1:n.678+6C>T
XR_001736987.1:n.843+6C>T
XR_001736988.1:n.843+6C>T
XR_001736989.1:n.843+6C>T
XR_001736990.1:n.726+6C>T