Canonical Allele Identifier: CA404244525

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12652398C>G , CM000681.2:g.12652398C>G	GRCh38
NC_000019.9:g.12763212C>G , CM000681.1:g.12763212C>G	GRCh37
NC_000019.8:g.12624212C>G	NCBI36
NG_008318.1:g.19380G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1893G>C MANE Select	NP_000519.2:p.Gln631His
ENST00000456935.7:c.1893G>C MANE Select	ENSP00000395473.2:p.Gln631His
NM_000528.3:c.1893G>C	NP_000519.2:p.Gln631His
NM_001173498.1:c.1890G>C	NP_001166969.1:p.Gln630His
NM_001173498.2:c.1890G>C	NP_001166969.1:p.Gln630His
ENST00000221363.8:c.1890G>C	ENSP00000221363.4:p.Gln630His
ENST00000433513.5:n.499G>C
ENST00000456935.6:c.1893G>C	ENSP00000395473.2:p.Gln631His
ENST00000466794.5:n.2483G>C
ENST00000593686.1:c.486G>C
ENST00000595880.5:n.490G>C
ENST00000596591.1:c.226G>C
XM_005259913.1:c.1896G>C	XP_005259970.1:p.Gln632His
XM_005259913.2:c.1896G>C	XP_005259970.1:p.Gln632His
XM_011528017.1:c.792G>C	XP_011526319.1:p.Gln264His
XM_024451518.1:c.792G>C	XP_024307286.1:p.Gln264His