Canonical Allele Identifier: CA2582722380

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12664811-TGCTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664813_12664818del , CM000681.2:g.12664813_12664818del	GRCh38
NC_000019.9:g.12775627_12775632del , CM000681.1:g.12775627_12775632del	GRCh37
NC_000019.8:g.12636627_12636632del	NCBI36
NG_008318.1:g.6961_6966del
NG_015814.1:g.3010_3015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.605_610del MANE Select	ENSP00000395473.2:p.Arg202_Glu203del
ENST00000221363.8:c.605_610del	ENSP00000221363.4:p.Arg202_Glu203del
ENST00000456935.6:c.605_610del	ENSP00000395473.2:p.Arg202_Glu203del
ENST00000466794.5:n.587_592del
ENST00000486847.2:c.333+535_333+540del	ENSP00000470174.1:n.333+535_333+540del
ENST00000596512.5:n.543_548del
NM_000528.3:c.605_610del	NP_000519.2:p.Arg202_Glu203del
NM_001173498.1:c.605_610del	NP_001166969.1:p.Arg202_Glu203del
XM_005259913.1:c.605_610del	XP_005259970.1:p.Arg202_Glu203del
XM_005259913.2:c.605_610del	XP_005259970.1:p.Arg202_Glu203del
XM_024451518.1:c.-414_-409del	XP_024307286.1:n.-414_-409del
NM_000528.4:c.605_610del MANE Select	NP_000519.2:p.Arg202_Glu203del
NM_001173498.2:c.605_610del	NP_001166969.1:p.Arg202_Glu203del