Canonical Allele Identifier: CA404244247

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12652236G>A , CM000681.2:g.12652236G>A	GRCh38
NC_000019.9:g.12763050G>A , CM000681.1:g.12763050G>A	GRCh37
NC_000019.8:g.12624050G>A	NCBI36
NG_008318.1:g.19542C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1963C>T MANE Select	NP_000519.2:p.Gln655Ter
ENST00000456935.7:c.1963C>T MANE Select	ENSP00000395473.2:p.Gln655Ter
NM_000528.3:c.1963C>T	NP_000519.2:p.Gln655Ter
NM_001173498.1:c.1960C>T	NP_001166969.1:p.Gln654Ter
NM_001173498.2:c.1960C>T	NP_001166969.1:p.Gln654Ter
ENST00000221363.8:c.1960C>T	ENSP00000221363.4:p.Gln654Ter
ENST00000456935.6:c.1963C>T	ENSP00000395473.2:p.Gln655Ter
ENST00000466794.5:n.2553C>T
ENST00000595880.5:n.560C>T
ENST00000596591.1:c.296C>T
XM_005259913.1:c.1966C>T	XP_005259970.1:p.Gln656Ter
XM_005259913.2:c.1966C>T	XP_005259970.1:p.Gln656Ter
XM_011528017.1:c.862C>T	XP_011526319.1:p.Gln288Ter
XM_024451518.1:c.862C>T	XP_024307286.1:p.Gln288Ter