Canonical Allele Identifier: CA141275281
Gene: B3GAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.70950408A>G , CM000668.2:g.70950408A>G GRCh38
NC_000006.11:g.71660111A>G , CM000668.1:g.71660111A>G GRCh37
NC_000006.10:g.71716832A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230053.11:c.591+5431T>C MANE Select ENSP00000230053.6:n.591+5431T>C
ENST00000230053.10:c.591+5431T>C ENSP00000230053.6:n.591+5431T>C
ENST00000615536.1:c.375+5647T>C ENSP00000481320.1:n.375+5647T>C
NM_080742.2:c.591+5431T>C NP_542780.1:n.591+5431T>C
XM_006715346.2:c.591+5431T>C XP_006715409.1:n.591+5431T>C
NM_080742.3:c.591+5431T>C MANE Select NP_542780.1:n.591+5431T>C