Canonical Allele Identifier: CA344928489

Gene: B3GALNT2

Linked Data

• dbSNP Id: rs1168664158
• gnomAD v3: 1-235489221-A-C
• gnomAD v4: 1-235489221-A-C
• MyVariant Identifiers: chr1:g.235652526A>C (hg19) ; chr1:g.235489221A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.308T>G MANE Select	ENSP00000355559.3:p.Val103Gly
ENST00000675193.1:c.431T>G	ENSP00000502069.1:p.Val144Gly
ENST00000675555.1:c.86T>G	ENSP00000501896.1:p.Val29Gly
ENST00000676288.1:c.431T>G	ENSP00000502392.1:p.Val144Gly
ENST00000313984.3:c.431T>G	ENSP00000315678.3:p.Val144Gly
ENST00000366600.7:c.308T>G	ENSP00000355559.3:p.Val103Gly
ENST00000494378.1:n.434-4706T>G
ENST00000612859.4:c.261-4706T>G	ENSP00000481548.1:n.261-4706T>G
NM_001277155.2:c.431T>G	NP_001264084.1:p.Val144Gly
NM_152490.4:c.308T>G	NP_689703.1:p.Val103Gly
XM_005273071.3:c.308T>G	XP_005273128.1:p.Val103Gly
XM_006711749.2:c.308T>G	XP_006711812.1:p.Val103Gly
XM_011544096.1:c.308T>G	XP_011542398.1:p.Val103Gly
XM_011544097.1:c.308T>G	XP_011542399.1:p.Val103Gly
XM_006711749.3:c.308T>G	XP_006711812.1:p.Val103Gly
XM_017000394.1:c.431T>G	XP_016855883.1:p.Val144Gly
XM_017000395.1:c.431T>G	XP_016855884.1:p.Val144Gly
XR_001736987.1:n.596T>G
XR_001736988.1:n.596T>G
XR_001736989.1:n.596T>G
XR_001736990.1:n.479T>G
NM_152490.5:c.308T>G MANE Select	NP_689703.1:p.Val103Gly
NM_001277155.3:c.431T>G	NP_001264084.1:p.Val144Gly