Canonical Allele Identifier: CA344928294

Gene: B3GALNT2

Linked Data

• gnomAD v4: 1-235489192-T-G
• MyVariant Identifiers: chr1:g.235652497T>G (hg19) ; chr1:g.235489192T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489192T>G , CM000663.2:g.235489192T>G	GRCh38
NC_000001.10:g.235652497T>G , CM000663.1:g.235652497T>G	GRCh37
NC_000001.9:g.233719120T>G	NCBI36
NG_033219.2:g.20290A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.337A>C MANE Select	ENSP00000355559.3:p.Lys113Gln
ENST00000675193.1:c.460A>C	ENSP00000502069.1:p.Lys154Gln
ENST00000675555.1:c.115A>C	ENSP00000501896.1:p.Lys39Gln
ENST00000676288.1:c.460A>C	ENSP00000502392.1:p.Lys154Gln
ENST00000313984.3:c.460A>C	ENSP00000315678.3:p.Lys154Gln
ENST00000366600.7:c.337A>C	ENSP00000355559.3:p.Lys113Gln
ENST00000494378.1:n.434-4677A>C
ENST00000612859.4:c.261-4677A>C	ENSP00000481548.1:n.261-4677A>C
NM_001277155.2:c.460A>C	NP_001264084.1:p.Lys154Gln
NM_152490.4:c.337A>C	NP_689703.1:p.Lys113Gln
XM_005273071.3:c.337A>C	XP_005273128.1:p.Lys113Gln
XM_006711749.2:c.337A>C	XP_006711812.1:p.Lys113Gln
XM_011544096.1:c.337A>C	XP_011542398.1:p.Lys113Gln
XM_011544097.1:c.337A>C	XP_011542399.1:p.Lys113Gln
XM_006711749.3:c.337A>C	XP_006711812.1:p.Lys113Gln
XM_017000394.1:c.460A>C	XP_016855883.1:p.Lys154Gln
XM_017000395.1:c.460A>C	XP_016855884.1:p.Lys154Gln
XR_001736987.1:n.625A>C
XR_001736988.1:n.625A>C
XR_001736989.1:n.625A>C
XR_001736990.1:n.508A>C
NM_152490.5:c.337A>C MANE Select	NP_689703.1:p.Lys113Gln
NM_001277155.3:c.460A>C	NP_001264084.1:p.Lys154Gln