Canonical Allele Identifier: CA2840346941

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649062dup , CM000681.2:g.12649062dup	GRCh38
NC_000019.9:g.12759876dup , CM000681.1:g.12759876dup	GRCh37
NC_000019.8:g.12620876dup	NCBI36
NG_008318.1:g.22716dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2436+74dup MANE Select	ENSP00000395473.2:n.2436+74dup
ENST00000221363.8:c.2433+74dup	ENSP00000221363.4:n.2433+74dup
ENST00000456935.6:c.2436+74dup	ENSP00000395473.2:n.2436+74dup
ENST00000466794.5:n.3026+74dup
NM_000528.3:c.2436+74dup	NP_000519.2:n.2436+74dup
NM_001173498.1:c.2433+74dup	NP_001166969.1:n.2433+74dup
XM_005259913.1:c.2439+74dup	XP_005259970.1:n.2439+74dup
XM_011528017.1:c.1335+74dup	XP_011526319.1:n.1335+74dup
XM_005259913.2:c.2439+74dup	XP_005259970.1:n.2439+74dup
XM_024451518.1:c.1335+74dup	XP_024307286.1:n.1335+74dup
NM_000528.4:c.2436+74dup MANE Select	NP_000519.2:n.2436+74dup
NM_001173498.2:c.2433+74dup	NP_001166969.1:n.2433+74dup