Canonical Allele Identifier: CA2510573099

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647915_12647916insAT , CM000681.2:g.12647915_12647916insAT	GRCh38
NC_000019.9:g.12758729_12758730insAT , CM000681.1:g.12758729_12758730insAT	GRCh37
NC_000019.8:g.12619729_12619730insAT	NCBI36
NG_008318.1:g.23862_23863insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+259_2664+260insAT MANE Select	ENSP00000395473.2:n.2664+259_2664+260insAT
ENST00000221363.8:c.2661+259_2661+260insAT	ENSP00000221363.4:n.2661+259_2661+260insAT
ENST00000456935.6:c.2664+259_2664+260insAT	ENSP00000395473.2:n.2664+259_2664+260insAT
ENST00000466794.5:n.3254+259_3254+260insAT
ENST00000597692.1:c.223+259_223+260insAT
NM_000528.3:c.2664+259_2664+260insAT	NP_000519.2:n.2664+259_2664+260insAT
NM_001173498.1:c.2661+259_2661+260insAT	NP_001166969.1:n.2661+259_2661+260insAT
XM_005259913.1:c.2667+259_2667+260insAT	XP_005259970.1:n.2667+259_2667+260insAT
XM_011528017.1:c.1563+259_1563+260insAT	XP_011526319.1:n.1563+259_1563+260insAT
XM_005259913.2:c.2667+259_2667+260insAT	XP_005259970.1:n.2667+259_2667+260insAT
XM_024451518.1:c.1563+259_1563+260insAT	XP_024307286.1:n.1563+259_1563+260insAT
NM_000528.4:c.2664+259_2664+260insAT MANE Select	NP_000519.2:n.2664+259_2664+260insAT
NM_001173498.2:c.2661+259_2661+260insAT	NP_001166969.1:n.2661+259_2661+260insAT