Canonical Allele Identifier: CA529473490

Gene: B3GALNT2

Linked Data

• dbSNP Id: rs1209289522
• gnomAD v2: 1-235652452-TCAAG-T
• gnomAD v4: 1-235489147-TCAAG-T
• MyVariant Identifiers: chr1:g.235652453_235652456del (hg19) ; chr1:g.235489148_235489151del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489148_235489151del , CM000663.2:g.235489148_235489151del	GRCh38
NC_000001.10:g.235652453_235652456del , CM000663.1:g.235652453_235652456del	GRCh37
NC_000001.9:g.233719076_233719079del	NCBI36
NG_033219.2:g.20331_20334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.361+17_361+20del MANE Select	ENSP00000355559.3:n.361+17_361+20del
ENST00000675193.1:c.484+17_484+20del	ENSP00000502069.1:n.484+17_484+20del
ENST00000675555.1:c.139+17_139+20del	ENSP00000501896.1:n.139+17_139+20del
ENST00000676288.1:c.484+17_484+20del	ENSP00000502392.1:n.484+17_484+20del
ENST00000313984.3:c.484+17_484+20del	ENSP00000315678.3:n.484+17_484+20del
ENST00000366600.7:c.361+17_361+20del	ENSP00000355559.3:n.361+17_361+20del
ENST00000494378.1:n.434-4636_434-4633del
ENST00000612859.4:c.261-4636_261-4633del	ENSP00000481548.1:n.261-4636_261-4633del
NM_001277155.2:c.484+17_484+20del	NP_001264084.1:n.484+17_484+20del
NM_152490.4:c.361+17_361+20del	NP_689703.1:n.361+17_361+20del
XM_005273071.3:c.361+17_361+20del	XP_005273128.1:n.361+17_361+20del
XM_006711749.2:c.361+17_361+20del	XP_006711812.1:n.361+17_361+20del
XM_011544096.1:c.361+17_361+20del	XP_011542398.1:n.361+17_361+20del
XM_011544097.1:c.361+17_361+20del	XP_011542399.1:n.361+17_361+20del
XM_006711749.3:c.361+17_361+20del	XP_006711812.1:n.361+17_361+20del
XM_017000394.1:c.484+17_484+20del	XP_016855883.1:n.484+17_484+20del
XM_017000395.1:c.484+17_484+20del	XP_016855884.1:n.484+17_484+20del
XR_001736987.1:n.649+17_649+20del
XR_001736988.1:n.649+17_649+20del
XR_001736989.1:n.649+17_649+20del
XR_001736990.1:n.532+17_532+20del
NM_152490.5:c.361+17_361+20del MANE Select	NP_689703.1:n.361+17_361+20del
NM_001277155.3:c.484+17_484+20del	NP_001264084.1:n.484+17_484+20del