Canonical Allele Identifier: CA733125909

Gene: B3GALNT2

Linked Data

• dbSNP Id: rs1190520036
• gnomAD v3: 1-235489120-ACT-A
• gnomAD v4: 1-235489120-ACT-A
• MyVariant Identifiers: chr1:g.235652426_235652427del (hg19) ; chr1:g.235489121_235489122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489122_235489123del , CM000663.2:g.235489122_235489123del	GRCh38
NC_000001.10:g.235652427_235652428del , CM000663.1:g.235652427_235652428del	GRCh37
NC_000001.9:g.233719050_233719051del	NCBI36
NG_033219.2:g.20360_20361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.361+46_361+47del MANE Select	ENSP00000355559.3:n.361+46_361+47del
ENST00000675193.1:c.484+46_484+47del	ENSP00000502069.1:n.484+46_484+47del
ENST00000675555.1:c.139+46_139+47del	ENSP00000501896.1:n.139+46_139+47del
ENST00000676288.1:c.484+46_484+47del	ENSP00000502392.1:n.484+46_484+47del
ENST00000313984.3:c.484+46_484+47del	ENSP00000315678.3:n.484+46_484+47del
ENST00000366600.7:c.361+46_361+47del	ENSP00000355559.3:n.361+46_361+47del
ENST00000494378.1:n.434-4607_434-4606del
ENST00000612859.4:c.261-4607_261-4606del	ENSP00000481548.1:n.261-4607_261-4606del
NM_001277155.2:c.484+46_484+47del	NP_001264084.1:n.484+46_484+47del
NM_152490.4:c.361+46_361+47del	NP_689703.1:n.361+46_361+47del
XM_005273071.3:c.361+46_361+47del	XP_005273128.1:n.361+46_361+47del
XM_006711749.2:c.361+46_361+47del	XP_006711812.1:n.361+46_361+47del
XM_011544096.1:c.361+46_361+47del	XP_011542398.1:n.361+46_361+47del
XM_011544097.1:c.361+46_361+47del	XP_011542399.1:n.361+46_361+47del
XM_006711749.3:c.361+46_361+47del	XP_006711812.1:n.361+46_361+47del
XM_017000394.1:c.484+46_484+47del	XP_016855883.1:n.484+46_484+47del
XM_017000395.1:c.484+46_484+47del	XP_016855884.1:n.484+46_484+47del
XR_001736987.1:n.649+46_649+47del
XR_001736988.1:n.649+46_649+47del
XR_001736989.1:n.649+46_649+47del
XR_001736990.1:n.532+46_532+47del
NM_152490.5:c.361+46_361+47del MANE Select	NP_689703.1:n.361+46_361+47del
NM_001277155.3:c.484+46_484+47del	NP_001264084.1:n.484+46_484+47del