Canonical Allele Identifier: CA2748219439
Gene: B3GALNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235488981_235488982del , CM000663.2:g.235488981_235488982del GRCh38
NC_000001.10:g.235652286_235652287del , CM000663.1:g.235652286_235652287del GRCh37
NC_000001.9:g.233718909_233718910del NCBI36
NG_033219.2:g.20501_20502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366600.8:c.361+187_361+188del MANE Select ENSP00000355559.3:n.361+187_361+188del
ENST00000675193.1:c.484+187_484+188del ENSP00000502069.1:n.484+187_484+188del
ENST00000675555.1:c.139+187_139+188del ENSP00000501896.1:n.139+187_139+188del
ENST00000676288.1:c.484+187_484+188del ENSP00000502392.1:n.484+187_484+188del
ENST00000313984.3:c.484+187_484+188del ENSP00000315678.3:n.484+187_484+188del
ENST00000366600.7:c.361+187_361+188del ENSP00000355559.3:n.361+187_361+188del
ENST00000494378.1:n.434-4466_434-4465del
ENST00000612859.4:c.261-4466_261-4465del ENSP00000481548.1:n.261-4466_261-4465del
NM_001277155.2:c.484+187_484+188del NP_001264084.1:n.484+187_484+188del
NM_152490.4:c.361+187_361+188del NP_689703.1:n.361+187_361+188del
XM_005273071.3:c.361+187_361+188del XP_005273128.1:n.361+187_361+188del
XM_006711749.2:c.361+187_361+188del XP_006711812.1:n.361+187_361+188del
XM_011544096.1:c.361+187_361+188del XP_011542398.1:n.361+187_361+188del
XM_011544097.1:c.361+187_361+188del XP_011542399.1:n.361+187_361+188del
XM_006711749.3:c.361+187_361+188del XP_006711812.1:n.361+187_361+188del
XM_017000394.1:c.484+187_484+188del XP_016855883.1:n.484+187_484+188del
XM_017000395.1:c.484+187_484+188del XP_016855884.1:n.484+187_484+188del
XR_001736987.1:n.649+187_649+188del
XR_001736988.1:n.649+187_649+188del
XR_001736989.1:n.649+187_649+188del
XR_001736990.1:n.532+187_532+188del
NM_152490.5:c.361+187_361+188del MANE Select NP_689703.1:n.361+187_361+188del
NM_001277155.3:c.484+187_484+188del NP_001264084.1:n.484+187_484+188del