Canonical Allele Identifier: CA2813644896

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649260_12649261insAA , CM000681.2:g.12649260_12649261insAA	GRCh38
NC_000019.9:g.12760074_12760075insAA , CM000681.1:g.12760074_12760075insAA	GRCh37
NC_000019.8:g.12621074_12621075insAA	NCBI36
NG_008318.1:g.22517_22518insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2356-45_2356-44insTT MANE Select	ENSP00000395473.2:n.2356-45_2356-44insTT
ENST00000221363.8:c.2353-45_2353-44insTT	ENSP00000221363.4:n.2353-45_2353-44insTT
ENST00000456935.6:c.2356-45_2356-44insTT	ENSP00000395473.2:n.2356-45_2356-44insTT
ENST00000466794.5:n.2946-45_2946-44insTT
NM_000528.3:c.2356-45_2356-44insTT	NP_000519.2:n.2356-45_2356-44insTT
NM_001173498.1:c.2353-45_2353-44insTT	NP_001166969.1:n.2353-45_2353-44insTT
XM_005259913.1:c.2359-45_2359-44insTT	XP_005259970.1:n.2359-45_2359-44insTT
XM_011528017.1:c.1255-45_1255-44insTT	XP_011526319.1:n.1255-45_1255-44insTT
XM_005259913.2:c.2359-45_2359-44insTT	XP_005259970.1:n.2359-45_2359-44insTT
XM_024451518.1:c.1255-45_1255-44insTT	XP_024307286.1:n.1255-45_1255-44insTT
NM_000528.4:c.2356-45_2356-44insTT MANE Select	NP_000519.2:n.2356-45_2356-44insTT
NM_001173498.2:c.2353-45_2353-44insTT	NP_001166969.1:n.2353-45_2353-44insTT