Canonical Allele Identifier: CA344928510

Gene: B3GALNT2

Linked Data

• MyVariant Identifiers: chr1:g.235652532A>G (hg19) ; chr1:g.235489227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489227A>G , CM000663.2:g.235489227A>G	GRCh38
NC_000001.10:g.235652532A>G , CM000663.1:g.235652532A>G	GRCh37
NC_000001.9:g.233719155A>G	NCBI36
NG_033219.2:g.20255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.302T>C MANE Select	ENSP00000355559.3:p.Val101Ala
ENST00000675193.1:c.425T>C	ENSP00000502069.1:p.Val142Ala
ENST00000675555.1:c.80T>C	ENSP00000501896.1:p.Val27Ala
ENST00000676288.1:c.425T>C	ENSP00000502392.1:p.Val142Ala
ENST00000313984.3:c.425T>C	ENSP00000315678.3:p.Val142Ala
ENST00000366600.7:c.302T>C	ENSP00000355559.3:p.Val101Ala
ENST00000494378.1:n.434-4712T>C
ENST00000612859.4:c.261-4712T>C	ENSP00000481548.1:n.261-4712T>C
NM_001277155.2:c.425T>C	NP_001264084.1:p.Val142Ala
NM_152490.4:c.302T>C	NP_689703.1:p.Val101Ala
XM_005273071.3:c.302T>C	XP_005273128.1:p.Val101Ala
XM_006711749.2:c.302T>C	XP_006711812.1:p.Val101Ala
XM_011544096.1:c.302T>C	XP_011542398.1:p.Val101Ala
XM_011544097.1:c.302T>C	XP_011542399.1:p.Val101Ala
XM_006711749.3:c.302T>C	XP_006711812.1:p.Val101Ala
XM_017000394.1:c.425T>C	XP_016855883.1:p.Val142Ala
XM_017000395.1:c.425T>C	XP_016855884.1:p.Val142Ala
XR_001736987.1:n.590T>C
XR_001736988.1:n.590T>C
XR_001736989.1:n.590T>C
XR_001736990.1:n.473T>C
NM_152490.5:c.302T>C MANE Select	NP_689703.1:p.Val101Ala
NM_001277155.3:c.425T>C	NP_001264084.1:p.Val142Ala