Canonical Allele Identifier: CA993650338

Gene: MAN2B1

Linked Data

• dbSNP Id: rs755434737
• gnomAD v3: 19-12663303-G-C
• gnomAD v4: 19-12663303-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663303G>C , CM000681.2:g.12663303G>C	GRCh38
NC_000019.9:g.12774117G>C , CM000681.1:g.12774117G>C	GRCh37
NC_000019.8:g.12635117G>C	NCBI36
NG_008318.1:g.8475C>G
NG_015814.1:g.1500G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.909+14C>G MANE Select	ENSP00000395473.2:n.909+14C>G
ENST00000221363.8:c.909+14C>G	ENSP00000221363.4:n.909+14C>G
ENST00000456935.6:c.909+14C>G	ENSP00000395473.2:n.909+14C>G
ENST00000462144.1:n.102+14C>G
ENST00000466794.5:n.891+14C>G
NM_000528.3:c.909+14C>G	NP_000519.2:n.909+14C>G
NM_001173498.1:c.909+14C>G	NP_001166969.1:n.909+14C>G
XM_005259913.1:c.909+14C>G	XP_005259970.1:n.909+14C>G
XM_011528017.1:c.-110+14C>G	XP_011526319.1:n.-110+14C>G
XM_005259913.2:c.909+14C>G	XP_005259970.1:n.909+14C>G
XM_024451518.1:c.-110+14C>G	XP_024307286.1:n.-110+14C>G
NM_000528.4:c.909+14C>G MANE Select	NP_000519.2:n.909+14C>G
NM_001173498.2:c.909+14C>G	NP_001166969.1:n.909+14C>G