Canonical Allele Identifier: CA993646400

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657254-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657259_12657260dup , CM000681.2:g.12657259_12657260dup	GRCh38
NC_000019.9:g.12768073_12768074dup , CM000681.1:g.12768073_12768074dup	GRCh37
NC_000019.8:g.12629073_12629074dup	NCBI36
NG_008318.1:g.14522_14523dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+190_1419+191dup MANE Select	ENSP00000395473.2:n.1419+190_1419+191dup
ENST00000221363.8:c.1416+190_1416+191dup	ENSP00000221363.4:n.1416+190_1416+191dup
ENST00000456935.6:c.1419+190_1419+191dup	ENSP00000395473.2:n.1419+190_1419+191dup
ENST00000466794.5:n.1318+190_1318+191dup
ENST00000495617.1:n.595+190_595+191dup
ENST00000593686.1:c.29+190_29+191dup
ENST00000595880.5:n.16+108_16+109dup
NM_000528.3:c.1419+190_1419+191dup	NP_000519.2:n.1419+190_1419+191dup
NM_001173498.1:c.1416+190_1416+191dup	NP_001166969.1:n.1416+190_1416+191dup
XM_005259913.1:c.1422+190_1422+191dup	XP_005259970.1:n.1422+190_1422+191dup
XM_011528017.1:c.318+190_318+191dup	XP_011526319.1:n.318+190_318+191dup
XM_005259913.2:c.1422+190_1422+191dup	XP_005259970.1:n.1422+190_1422+191dup
XM_024451518.1:c.318+190_318+191dup	XP_024307286.1:n.318+190_318+191dup
NM_000528.4:c.1419+190_1419+191dup MANE Select	NP_000519.2:n.1419+190_1419+191dup
NM_001173498.2:c.1416+190_1416+191dup	NP_001166969.1:n.1416+190_1416+191dup