Canonical Allele Identifier: CA2582722381

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12664817-C-CAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664817_12664818insAACA , CM000681.2:g.12664817_12664818insAACA	GRCh38
NC_000019.9:g.12775631_12775632insAACA , CM000681.1:g.12775631_12775632insAACA	GRCh37
NC_000019.8:g.12636631_12636632insAACA	NCBI36
NG_008318.1:g.6960_6961insTGTT
NG_015814.1:g.3014_3015insAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.604_605insTGTT MANE Select	ENSP00000395473.2:p.Arg202LeufsTer22
ENST00000221363.8:c.604_605insTGTT	ENSP00000221363.4:p.Arg202LeufsTer22
ENST00000456935.6:c.604_605insTGTT	ENSP00000395473.2:p.Arg202LeufsTer22
ENST00000466794.5:n.586_587insTGTT
ENST00000486847.2:c.333+534_333+535insTGTT	ENSP00000470174.1:n.333+534_333+535insTGTT
ENST00000596512.5:n.542_543insTGTT
NM_000528.3:c.604_605insTGTT	NP_000519.2:p.Arg202LeufsTer22
NM_001173498.1:c.604_605insTGTT	NP_001166969.1:p.Arg202LeufsTer22
XM_005259913.1:c.604_605insTGTT	XP_005259970.1:p.Arg202LeufsTer22
XM_005259913.2:c.604_605insTGTT	XP_005259970.1:p.Arg202LeufsTer22
XM_024451518.1:c.-415_-414insTGTT	XP_024307286.1:n.-415_-414insTGTT
NM_000528.4:c.604_605insTGTT MANE Select	NP_000519.2:p.Arg202LeufsTer22
NM_001173498.2:c.604_605insTGTT	NP_001166969.1:p.Arg202LeufsTer22