Canonical Allele Identifier: CA827673717
Gene: B3GAT2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.70904152G>T , CM000668.2:g.70904152G>T GRCh38
NC_000006.11:g.71613855G>T , CM000668.1:g.71613855G>T GRCh37
NC_000006.10:g.71670576G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230053.11:c.592-9880C>A MANE Select ENSP00000230053.6:n.592-9880C>A
ENST00000230053.10:c.592-9880C>A ENSP00000230053.6:n.592-9880C>A
ENST00000615536.1:c.376-9880C>A ENSP00000481320.1:n.376-9880C>A
NM_080742.2:c.592-9880C>A NP_542780.1:n.592-9880C>A
XM_006715346.2:c.592-9880C>A XP_006715409.1:n.592-9880C>A
XR_942675.1:n.312-343G>T
XR_942676.1:n.471-343G>T
XR_001744196.1:n.239-343G>T
XR_942676.2:n.471-343G>T
NM_080742.3:c.592-9880C>A MANE Select NP_542780.1:n.592-9880C>A