Canonical Allele Identifier: CA350978

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664823T>A , CM000681.2:g.12664823T>A	GRCh38
NC_000019.9:g.12775637T>A , CM000681.1:g.12775637T>A	GRCh37
NC_000019.8:g.12636637T>A	NCBI36
NG_008318.1:g.6955A>T
NG_015814.1:g.3020T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.599A>T MANE Select	NP_000519.2:p.His200Leu
ENST00000456935.7:c.599A>T MANE Select	ENSP00000395473.2:p.His200Leu
NM_000528.3:c.599A>T	NP_000519.2:p.His200Leu
NM_001173498.1:c.599A>T	NP_001166969.1:p.His200Leu
NM_001173498.2:c.599A>T	NP_001166969.1:p.His200Leu
ENST00000221363.8:c.599A>T	ENSP00000221363.4:p.His200Leu
ENST00000456935.6:c.599A>T	ENSP00000395473.2:p.His200Leu
ENST00000466794.5:n.581A>T
ENST00000486847.2:c.333+529A>T	ENSP00000470174.1:n.333+529A>T
ENST00000596512.5:n.537A>T
XM_005259913.1:c.599A>T	XP_005259970.1:p.His200Leu
XM_005259913.2:c.599A>T	XP_005259970.1:p.His200Leu
XM_024451518.1:c.-420A>T	XP_024307286.1:n.-420A>T