Canonical Allele Identifier: CA10609384

Gene: B3GALNT2 TBCE

Linked Data

• ClinVar Variation Id: 296314
• ClinVar RCV Id: RCV000331563
• dbSNP Id: rs886046152
• MyVariant Identifiers: chr1:g.235612137_235612139dupTAA (hg19) ; chr1:g.235448822_235448824dupTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235448822_235448824dup , CM000663.2:g.235448822_235448824dup	GRCh38
NC_000001.10:g.235612137_235612139dup , CM000663.1:g.235612137_235612139dup	GRCh37
NC_000001.9:g.233678760_233678762dup	NCBI36
NG_009230.1:g.86410_86412dup
NG_033219.2:g.60660_60662dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.*1384_*1386dup (B3GALNT2) MANE Select	ENSP00000355559.3:n.*1384_*1386dup
ENST00000366601.8:c.*60_*62dup (TBCE)	ENSP00000355560.4:n.*60_*62dup
ENST00000406207.5:c.*60_*62dup (TBCE)	ENSP00000384571.1:n.*60_*62dup
ENST00000465463.2:n.1595_1597dup (TBCE)
ENST00000472011.6:n.2368_2370dup (TBCE)
ENST00000543662.4:c.*60_*62dup (TBCE)	ENSP00000439170.1:n.*60_*62dup
ENST00000642339.1:c.*1341_*1343dup (TBCE)	ENSP00000495425.1:n.*1341_*1343dup
ENST00000642431.1:c.2221_2223dup
ENST00000642463.1:c.*1542_*1544dup (TBCE)	ENSP00000495007.1:n.*1542_*1544dup
ENST00000642610.2:c.*60_*62dup (TBCE) MANE Select	ENSP00000494796.1:n.*60_*62dup
ENST00000642764.1:n.2475_2477dup (TBCE)
ENST00000643125.1:c.*659_*661dup (TBCE)	ENSP00000494102.1:n.*659_*661dup
ENST00000643142.1:c.*1135_*1137dup (TBCE)	ENSP00000494755.1:n.*1135_*1137dup
ENST00000643410.1:c.*934_*936dup	ENSP00000495030.1:n.*934_*936dup
ENST00000643487.1:n.2331_2333dup (TBCE)
ENST00000643524.1:c.*1229_*1231dup (TBCE)	ENSP00000494026.1:n.*1229_*1231dup
ENST00000643615.1:c.*1490_*1492dup (TBCE)	ENSP00000496103.1:n.*1490_*1492dup
ENST00000643994.1:c.*1644_*1646dup (TBCE)	ENSP00000496322.1:n.*1644_*1646dup
ENST00000644037.1:c.*1854_*1856dup (TBCE)	ENSP00000496408.1:n.*1854_*1856dup
ENST00000644055.1:c.*2269_*2271dup	ENSP00000496307.1:n.*2269_*2271dup
ENST00000644217.1:c.*60_*62dup (TBCE)	ENSP00000494646.1:n.*60_*62dup
ENST00000644578.1:c.*60_*62dup (TBCE)	ENSP00000495953.1:n.*60_*62dup
ENST00000644604.1:c.*60_*62dup	ENSP00000495961.1:n.*60_*62dup
ENST00000644838.1:c.*1027_*1029dup (TBCE)	ENSP00000495910.1:n.*1027_*1029dup
ENST00000644910.1:c.2251_2253dup (TBCE)
ENST00000645205.1:c.*60_*62dup	ENSP00000495823.1:n.*60_*62dup
ENST00000645351.1:c.*60_*62dup	ENSP00000494319.1:n.*60_*62dup
ENST00000645578.1:c.*1418_*1420dup	ENSP00000496495.1:n.*1418_*1420dup
ENST00000645582.1:c.*1474_*1476dup (TBCE)	ENSP00000494980.1:n.*1474_*1476dup
ENST00000645655.1:c.*60_*62dup	ENSP00000495202.1:n.*60_*62dup
ENST00000645836.1:c.*1418_*1420dup	ENSP00000493915.1:n.*1418_*1420dup
ENST00000645964.1:c.*1510_*1512dup (TBCE)	ENSP00000494208.1:n.*1510_*1512dup
ENST00000646104.1:c.*2112_*2114dup (TBCE)	ENSP00000495475.1:n.*2112_*2114dup
ENST00000646186.1:c.*1316_*1318dup (TBCE)	ENSP00000493806.1:n.*1316_*1318dup
ENST00000646286.1:c.*1537_*1539dup (TBCE)	ENSP00000494291.1:n.*1537_*1539dup
ENST00000646463.1:c.*1409_*1411dup (TBCE)	ENSP00000494541.1:n.*1409_*1411dup
ENST00000646528.1:c.*2360_*2362dup	ENSP00000496553.1:n.*2360_*2362dup
ENST00000646536.1:c.*938_*940dup (TBCE)	ENSP00000494801.1:n.*938_*940dup
ENST00000646624.1:c.*60_*62dup	ENSP00000494575.1:n.*60_*62dup
ENST00000646661.1:n.424_426dup (TBCE)
ENST00000646821.1:c.*934_*936dup (TBCE)	ENSP00000495257.1:n.*934_*936dup
ENST00000647151.1:c.368_370dup (TBCE)	ENSP00000495125.1:n.368_370dup
ENST00000647186.1:c.*60_*62dup	ENSP00000494775.1:n.*60_*62dup
ENST00000647233.1:n.2624_2626dup (TBCE)
ENST00000647322.1:c.1235_1237dup (TBCE)
ENST00000647418.1:c.*1418_*1420dup (TBCE)	ENSP00000493552.1:n.*1418_*1420dup
ENST00000647428.1:c.*60_*62dup	ENSP00000495630.1:n.*60_*62dup
ENST00000651186.1:c.*60_*62dup (TBCE)	ENSP00000498645.1:n.*60_*62dup
ENST00000675193.1:c.*1827_*1829dup (B3GALNT2)	ENSP00000502069.1:n.*1827_*1829dup
ENST00000366601.7:c.*60_*62dup	ENSP00000355560.3:n.*60_*62dup
ENST00000406207.4:c.*60_*62dup	ENSP00000384571.1:n.*60_*62dup
ENST00000472011.5:n.1696_1698dup
ENST00000543662.3:c.*60_*62dup	ENSP00000439170.1:n.*60_*62dup
NM_001079515.2:c.*60_*62dup (TBCE)	NP_001072983.1:n.*60_*62dup
NM_001287801.1:c.*60_*62dup (TBCE)	NP_001274730.1:n.*60_*62dup
NM_001287802.1:c.*60_*62dup (TBCE)	NP_001274731.1:n.*60_*62dup
NM_003193.4:c.*60_*62dup (TBCE)	NP_003184.1:n.*60_*62dup
NM_152490.4:c.*1384_*1386dup (B3GALNT2)	NP_689703.1:n.*1384_*1386dup
XM_006711749.2:c.1469+1418_1469+1420dup (B3GALNT2)	XP_006711812.1:n.1469+1418_1469+1420dup
XM_006711749.3:c.1469+1418_1469+1420dup (B3GALNT2)	XP_006711812.1:n.1469+1418_1469+1420dup
XM_017000394.1:c.*1384_*1386dup (B3GALNT2)	XP_016855883.1:n.*1384_*1386dup
XM_017000395.1:c.*1563_*1565dup (B3GALNT2)	XP_016855884.1:n.*1563_*1565dup
XR_001736987.1:n.2991_2993dup (B3GALNT2)
XR_001736989.1:n.2912_2914dup (B3GALNT2)
XR_001736990.1:n.2874_2876dup (B3GALNT2)
NM_003193.5:c.*60_*62dup (TBCE) MANE Select	NP_003184.1:n.*60_*62dup
NM_152490.5:c.*1384_*1386dup (B3GALNT2) MANE Select	NP_689703.1:n.*1384_*1386dup
NM_001079515.3:c.*60_*62dup (TBCE)	NP_001072983.1:n.*60_*62dup
NM_001287801.2:c.*60_*62dup (TBCE)	NP_001274730.1:n.*60_*62dup
NM_001287802.2:c.*60_*62dup (TBCE)	NP_001274731.1:n.*60_*62dup