Canonical Allele Identifier: CA1464941

Gene: B3GALNT2

Linked Data

• dbSNP Id: rs750173247
• ExAC: 1:235652475 G / A
• gnomAD v2: 1-235652475-G-A
• gnomAD v4: 1-235489170-G-A
• MyVariant Identifiers: chr1:g.235652475G>A (hg19) ; chr1:g.235489170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489170G>A , CM000663.2:g.235489170G>A	GRCh38
NC_000001.10:g.235652475G>A , CM000663.1:g.235652475G>A	GRCh37
NC_000001.9:g.233719098G>A	NCBI36
NG_033219.2:g.20312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.359C>T MANE Select	ENSP00000355559.3:p.Pro120Leu
ENST00000675193.1:c.482C>T	ENSP00000502069.1:p.Pro161Leu
ENST00000675555.1:c.137C>T	ENSP00000501896.1:p.Pro46Leu
ENST00000676288.1:c.482C>T	ENSP00000502392.1:p.Pro161Leu
ENST00000313984.3:c.482C>T	ENSP00000315678.3:p.Pro161Leu
ENST00000366600.7:c.359C>T	ENSP00000355559.3:p.Pro120Leu
ENST00000494378.1:n.434-4655C>T
ENST00000612859.4:c.261-4655C>T	ENSP00000481548.1:n.261-4655C>T
NM_001277155.2:c.482C>T	NP_001264084.1:p.Pro161Leu
NM_152490.4:c.359C>T	NP_689703.1:p.Pro120Leu
XM_005273071.3:c.359C>T	XP_005273128.1:p.Pro120Leu
XM_006711749.2:c.359C>T	XP_006711812.1:p.Pro120Leu
XM_011544096.1:c.359C>T	XP_011542398.1:p.Pro120Leu
XM_011544097.1:c.359C>T	XP_011542399.1:p.Pro120Leu
XM_006711749.3:c.359C>T	XP_006711812.1:p.Pro120Leu
XM_017000394.1:c.482C>T	XP_016855883.1:p.Pro161Leu
XM_017000395.1:c.482C>T	XP_016855884.1:p.Pro161Leu
XR_001736987.1:n.647C>T
XR_001736988.1:n.647C>T
XR_001736989.1:n.647C>T
XR_001736990.1:n.530C>T
NM_152490.5:c.359C>T MANE Select	NP_689703.1:p.Pro120Leu
NM_001277155.3:c.482C>T	NP_001264084.1:p.Pro161Leu