Canonical Allele Identifier: CA350939

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664824G>T , CM000681.2:g.12664824G>T	GRCh38
NC_000019.9:g.12775638G>T , CM000681.1:g.12775638G>T	GRCh37
NC_000019.8:g.12636638G>T	NCBI36
NG_008318.1:g.6954C>A
NG_015814.1:g.3021G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.598C>A MANE Select	NP_000519.2:p.His200Asn
ENST00000456935.7:c.598C>A MANE Select	ENSP00000395473.2:p.His200Asn
NM_000528.3:c.598C>A	NP_000519.2:p.His200Asn
NM_001173498.1:c.598C>A	NP_001166969.1:p.His200Asn
NM_001173498.2:c.598C>A	NP_001166969.1:p.His200Asn
ENST00000221363.8:c.598C>A	ENSP00000221363.4:p.His200Asn
ENST00000456935.6:c.598C>A	ENSP00000395473.2:p.His200Asn
ENST00000466794.5:n.580C>A
ENST00000486847.2:c.333+528C>A	ENSP00000470174.1:n.333+528C>A
ENST00000596512.5:n.536C>A
XM_005259913.1:c.598C>A	XP_005259970.1:p.His200Asn
XM_005259913.2:c.598C>A	XP_005259970.1:p.His200Asn
XM_024451518.1:c.-421C>A	XP_024307286.1:n.-421C>A