Canonical Allele Identifier: CA344928492

Gene: B3GALNT2

Linked Data

• gnomAD v4: 1-235489221-A-T
• MyVariant Identifiers: chr1:g.235652526A>T (hg19) ; chr1:g.235489221A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489221A>T , CM000663.2:g.235489221A>T	GRCh38
NC_000001.10:g.235652526A>T , CM000663.1:g.235652526A>T	GRCh37
NC_000001.9:g.233719149A>T	NCBI36
NG_033219.2:g.20261T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.308T>A MANE Select	ENSP00000355559.3:p.Val103Glu
ENST00000675193.1:c.431T>A	ENSP00000502069.1:p.Val144Glu
ENST00000675555.1:c.86T>A	ENSP00000501896.1:p.Val29Glu
ENST00000676288.1:c.431T>A	ENSP00000502392.1:p.Val144Glu
ENST00000313984.3:c.431T>A	ENSP00000315678.3:p.Val144Glu
ENST00000366600.7:c.308T>A	ENSP00000355559.3:p.Val103Glu
ENST00000494378.1:n.434-4706T>A
ENST00000612859.4:c.261-4706T>A	ENSP00000481548.1:n.261-4706T>A
NM_001277155.2:c.431T>A	NP_001264084.1:p.Val144Glu
NM_152490.4:c.308T>A	NP_689703.1:p.Val103Glu
XM_005273071.3:c.308T>A	XP_005273128.1:p.Val103Glu
XM_006711749.2:c.308T>A	XP_006711812.1:p.Val103Glu
XM_011544096.1:c.308T>A	XP_011542398.1:p.Val103Glu
XM_011544097.1:c.308T>A	XP_011542399.1:p.Val103Glu
XM_006711749.3:c.308T>A	XP_006711812.1:p.Val103Glu
XM_017000394.1:c.431T>A	XP_016855883.1:p.Val144Glu
XM_017000395.1:c.431T>A	XP_016855884.1:p.Val144Glu
XR_001736987.1:n.596T>A
XR_001736988.1:n.596T>A
XR_001736989.1:n.596T>A
XR_001736990.1:n.479T>A
NM_152490.5:c.308T>A MANE Select	NP_689703.1:p.Val103Glu
NM_001277155.3:c.431T>A	NP_001264084.1:p.Val144Glu