Canonical Allele Identifier: CA2739276539

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2819013
• ClinVar RCV Id: RCV003601659

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650151_12650155dup , CM000681.2:g.12650151_12650155dup	GRCh38
NC_000019.9:g.12760965_12760969dup , CM000681.1:g.12760965_12760969dup	GRCh37
NC_000019.8:g.12621965_12621969dup	NCBI36
NG_008318.1:g.21626_21630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2117_2121dup MANE Select	ENSP00000395473.2:p.Arg708AspfsTer7
ENST00000221363.8:c.2114_2118dup	ENSP00000221363.4:p.Arg707AspfsTer7
ENST00000456935.6:c.2117_2121dup	ENSP00000395473.2:p.Arg708AspfsTer7
ENST00000466794.5:n.2707_2711dup
NM_000528.3:c.2117_2121dup	NP_000519.2:p.Arg708AspfsTer7
NM_001173498.1:c.2114_2118dup	NP_001166969.1:p.Arg707AspfsTer7
XM_005259913.1:c.2120_2124dup	XP_005259970.1:p.Arg709AspfsTer7
XM_011528017.1:c.1016_1020dup	XP_011526319.1:p.Arg341AspfsTer7
XM_005259913.2:c.2120_2124dup	XP_005259970.1:p.Arg709AspfsTer7
XM_024451518.1:c.1016_1020dup	XP_024307286.1:p.Arg341AspfsTer7
NM_000528.4:c.2117_2121dup MANE Select	NP_000519.2:p.Arg708AspfsTer7
NM_001173498.2:c.2114_2118dup	NP_001166969.1:p.Arg707AspfsTer7