Canonical Allele Identifier: CA10642318

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12646665G>A , CM000681.2:g.12646665G>A	GRCh38
NC_000019.9:g.12757479G>A , CM000681.1:g.12757479G>A	GRCh37
NC_000019.8:g.12618479G>A	NCBI36
NG_008318.1:g.25113C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2991C>T MANE Select	NP_000519.2:p.Ile997=
ENST00000456935.7:c.2991C>T MANE Select	ENSP00000395473.2:p.Ile997=
NM_000528.3:c.2991C>T	NP_000519.2:p.Ile997=
NM_001173498.1:c.2988C>T	NP_001166969.1:p.Ile996=
NM_001173498.2:c.2988C>T	NP_001166969.1:p.Ile996=
ENST00000221363.8:c.2988C>T	ENSP00000221363.4:p.Ile996=
ENST00000456935.6:c.2991C>T	ENSP00000395473.2:p.Ile997=
ENST00000466794.5:n.3581C>T
ENST00000469423.1:n.420C>T
ENST00000480851.5:n.171C>T
ENST00000493218.5:n.402C>T
ENST00000597692.1:c.550C>T
XM_005259913.1:c.2994C>T	XP_005259970.1:p.Ile998=
XM_005259913.2:c.2994C>T	XP_005259970.1:p.Ile998=
XM_011528017.1:c.1890C>T	XP_011526319.1:p.Ile630=
XM_024451518.1:c.1890C>T	XP_024307286.1:p.Ile630=