Canonical Allele Identifier: CA344956614

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235454160T>C , CM000663.2:g.235454160T>C	GRCh38
NC_000001.10:g.235617472T>C , CM000663.1:g.235617472T>C	GRCh37
NC_000001.9:g.233684095T>C	NCBI36
NG_033219.2:g.55322A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.1307A>G MANE Select	NP_689703.1:p.Tyr436Cys
ENST00000366600.8:c.1307A>G MANE Select	ENSP00000355559.3:p.Tyr436Cys
NM_152490.4:c.1307A>G	NP_689703.1:p.Tyr436Cys
ENST00000366600.7:c.1307A>G	ENSP00000355559.3:p.Tyr436Cys
ENST00000477694.6:n.1695A>G
ENST00000675193.1:c.*247A>G	ENSP00000502069.1:n.*247A>G
ENST00000675555.1:c.1085A>G	ENSP00000501896.1:p.Tyr362Cys
ENST00000676288.1:c.1430A>G	ENSP00000502392.1:p.Tyr477Cys
XM_006711749.2:c.1307A>G	XP_006711812.1:p.Tyr436Cys
XM_006711749.3:c.1307A>G	XP_006711812.1:p.Tyr436Cys
XM_017000394.1:c.1430A>G	XP_016855883.1:p.Tyr477Cys
XM_017000395.1:c.1430A>G	XP_016855884.1:p.Tyr477Cys
XR_001736987.1:n.1411A>G
XR_001736989.1:n.1332A>G
XR_001736990.1:n.1294A>G