Canonical Allele Identifier: CA39582846

Gene: B3GALNT2

Linked Data

• ClinVar Variation Id: 473884
• ClinVar RCV Id: RCV000526619
• dbSNP Id: rs291396
• gnomAD v3: 1-235489208-C-T
• gnomAD v4: 1-235489208-C-T
• MyVariant Identifiers: chr1:g.235489208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489208C>T , CM000663.2:g.235489208C>T	GRCh38
NG_033219.2:g.20274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.321G>A MANE Select	ENSP00000355559.3:p.Glu107=
ENST00000675193.1:c.444G>A	ENSP00000502069.1:p.Glu148=
ENST00000675555.1:c.99G>A	ENSP00000501896.1:p.Glu33=
ENST00000676288.1:c.444G>A	ENSP00000502392.1:p.Glu148=
ENST00000313984.3:c.444G>A	ENSP00000315678.3:p.Glu148=
ENST00000366600.7:c.321G>A	ENSP00000355559.3:p.Glu107=
ENST00000494378.1:n.434-4693G>A
ENST00000612859.4:c.261-4693G>A	ENSP00000481548.1:n.261-4693G>A
NM_001277155.2:c.444G>A	NP_001264084.1:p.Glu148=
NM_152490.4:c.321G>A	NP_689703.1:p.Glu107=
XM_005273071.3:c.321G>A	XP_005273128.1:p.Glu107=
XM_006711749.2:c.321G>A	XP_006711812.1:p.Glu107=
XM_011544096.1:c.321G>A	XP_011542398.1:p.Glu107=
XM_011544097.1:c.321G>A	XP_011542399.1:p.Glu107=
XM_006711749.3:c.321G>A	XP_006711812.1:p.Glu107=
XM_017000394.1:c.444G>A	XP_016855883.1:p.Glu148=
XM_017000395.1:c.444G>A	XP_016855884.1:p.Glu148=
XR_001736987.1:n.609G>A
XR_001736988.1:n.609G>A
XR_001736989.1:n.609G>A
XR_001736990.1:n.492G>A
NM_152490.5:c.321G>A MANE Select	NP_689703.1:p.Glu107=
NM_001277155.3:c.444G>A	NP_001264084.1:p.Glu148=