Canonical Allele Identifier: CA2813645785

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658143_12658223del , CM000681.2:g.12658143_12658223del	GRCh38
NC_000019.9:g.12768957_12769037del , CM000681.1:g.12768957_12769037del	GRCh37
NC_000019.8:g.12629957_12630037del	NCBI36
NG_008318.1:g.13556_13636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1230+2_1231-1del MANE Select	ENSP00000395473.2:n.1230+2_1231-1del
ENST00000221363.8:c.1227+2_1228-1del	ENSP00000221363.4:n.1227+2_1228-1del
ENST00000456935.6:c.1230+2_1231-1del	ENSP00000395473.2:n.1230+2_1231-1del
ENST00000465830.1:n.394+2_395-1del
ENST00000466794.5:n.1129+2_1130-1del
ENST00000495617.1:n.281-462_281-382del
NM_000528.3:c.1230+2_1231-1del	NP_000519.2:n.1230+2_1231-1del
NM_001173498.1:c.1227+2_1228-1del	NP_001166969.1:n.1227+2_1228-1del
XM_005259913.1:c.1233+2_1234-1del	XP_005259970.1:n.1233+2_1234-1del
XM_011528017.1:c.129+2_130-1del	XP_011526319.1:n.129+2_130-1del
XM_005259913.2:c.1233+2_1234-1del	XP_005259970.1:n.1233+2_1234-1del
XM_024451518.1:c.129+2_130-1del	XP_024307286.1:n.129+2_130-1del
NM_000528.4:c.1230+2_1231-1del MANE Select	NP_000519.2:n.1230+2_1231-1del
NM_001173498.2:c.1227+2_1228-1del	NP_001166969.1:n.1227+2_1228-1del