Canonical Allele Identifier: CA2486521401

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489219_235489221delinsCCA , CM000663.2:g.235489219_235489221delinsCCA	GRCh38
NC_000001.10:g.235652524_235652526delinsCCA , CM000663.1:g.235652524_235652526delinsCCA	GRCh37
NC_000001.9:g.233719147_233719149delinsCCA	NCBI36
NG_033219.2:g.20261_20263delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.308_310delinsTGG MANE Select	ENSP00000355559.3:p.Val103=
ENST00000675193.1:c.431_433delinsTGG	ENSP00000502069.1:p.Val144=
ENST00000675555.1:c.86_88delinsTGG	ENSP00000501896.1:p.Val29=
ENST00000676288.1:c.431_433delinsTGG	ENSP00000502392.1:p.Val144=
ENST00000313984.3:c.431_433delinsTGG	ENSP00000315678.3:p.Val144=
ENST00000366600.7:c.308_310delinsTGG	ENSP00000355559.3:p.Val103=
ENST00000494378.1:n.434-4706_434-4704delinsTGG
ENST00000612859.4:c.261-4706_261-4704delinsTGG	ENSP00000481548.1:n.261-4706_261-4704delinsTGG
NM_001277155.2:c.431_433delinsTGG	NP_001264084.1:p.Val144=
NM_152490.4:c.308_310delinsTGG	NP_689703.1:p.Val103=
XM_005273071.3:c.308_310delinsTGG	XP_005273128.1:p.Val103=
XM_006711749.2:c.308_310delinsTGG	XP_006711812.1:p.Val103=
XM_011544096.1:c.308_310delinsTGG	XP_011542398.1:p.Val103=
XM_011544097.1:c.308_310delinsTGG	XP_011542399.1:p.Val103=
XM_006711749.3:c.308_310delinsTGG	XP_006711812.1:p.Val103=
XM_017000394.1:c.431_433delinsTGG	XP_016855883.1:p.Val144=
XM_017000395.1:c.431_433delinsTGG	XP_016855884.1:p.Val144=
XR_001736987.1:n.596_598delinsTGG
XR_001736988.1:n.596_598delinsTGG
XR_001736989.1:n.596_598delinsTGG
XR_001736990.1:n.479_481delinsTGG
NM_152490.5:c.308_310delinsTGG MANE Select	NP_689703.1:p.Val103=
NM_001277155.3:c.431_433delinsTGG	NP_001264084.1:p.Val144=