Canonical Allele Identifier: CA1464573

Gene: B3GALNT2 TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450230_235450231del , CM000663.2:g.235450230_235450231del	GRCh38
NC_000001.10:g.235613545_235613546del , CM000663.1:g.235613545_235613546del	GRCh37
NC_000001.9:g.233680168_233680169del	NCBI36
NG_009230.1:g.87818_87819del
NG_033219.2:g.59251_59252del

Transcript Alleles

HGVS	Amino-acid Change
NM_003193.5:c.*1468_*1469del (TBCE) MANE Select	NP_003184.1:n.*1468_*1469del
NM_152490.5:c.1478_1479del (B3GALNT2) MANE Select	NP_689703.1:p.Asp493AlafsTer12
ENST00000366600.8:c.1478_1479del (B3GALNT2) MANE Select	ENSP00000355559.3:p.Asp493AlafsTer12
ENST00000642610.2:c.*1468_*1469del (TBCE) MANE Select	ENSP00000494796.1:n.*1468_*1469del
NM_001079515.3:c.*1468_*1469del (TBCE)	NP_001072983.1:n.*1468_*1469del
NM_001287801.2:c.*1468_*1469del (TBCE)	NP_001274730.1:n.*1468_*1469del
NM_001287802.2:c.*1468_*1469del (TBCE)	NP_001274731.1:n.*1468_*1469del
NM_152490.4:c.1478_1479del (B3GALNT2)	NP_689703.1:p.Asp493AlafsTer12
ENST00000366600.7:c.1478_1479del (B3GALNT2)	ENSP00000355559.3:p.Asp493AlafsTer12
ENST00000675193.1:c.*418_*419del (B3GALNT2)	ENSP00000502069.1:n.*418_*419del
ENST00000675555.1:c.1256_1257del (B3GALNT2)	ENSP00000501896.1:p.Asp419AlafsTer12
ENST00000676288.1:c.*1126_*1127del (B3GALNT2)	ENSP00000502392.1:n.*1126_*1127del
XM_006711749.2:c.1469+9_1469+10del (B3GALNT2)	XP_006711812.1:n.1469+9_1469+10del
XM_006711749.3:c.1469+9_1469+10del (B3GALNT2)	XP_006711812.1:n.1469+9_1469+10del
XM_017000394.1:c.1601_1602del (B3GALNT2)	XP_016855883.1:p.Asp534AlafsTer12
XM_017000395.1:c.*154_*155del (B3GALNT2)	XP_016855884.1:n.*154_*155del
XR_001736987.1:n.1582_1583del (B3GALNT2)
XR_001736989.1:n.1503_1504del (B3GALNT2)
XR_001736990.1:n.1465_1466del (B3GALNT2)