Canonical Allele Identifier: CA1464930

Gene: B3GALNT2

Linked Data

• dbSNP Id: rs370276705
• ExAC: 1:235652426 C / T
• gnomAD v2: 1-235652426-C-T
• gnomAD v3: 1-235489121-C-T
• gnomAD v4: 1-235489121-C-T
• MyVariant Identifiers: chr1:g.235652426C>T (hg19) ; chr1:g.235489121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489121C>T , CM000663.2:g.235489121C>T	GRCh38
NC_000001.10:g.235652426C>T , CM000663.1:g.235652426C>T	GRCh37
NC_000001.9:g.233719049C>T	NCBI36
NG_033219.2:g.20361G>A

Transcript Alleles

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