Canonical Allele Identifier: CA2582720609

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657607-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657607_12657608insA , CM000681.2:g.12657607_12657608insA	GRCh38
NC_000019.9:g.12768421_12768422insA , CM000681.1:g.12768421_12768422insA	GRCh37
NC_000019.8:g.12629421_12629422insA	NCBI36
NG_008318.1:g.14170_14171insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1310-53_1310-52insT MANE Select	ENSP00000395473.2:n.1310-53_1310-52insT
ENST00000221363.8:c.1307-53_1307-52insT	ENSP00000221363.4:n.1307-53_1307-52insT
ENST00000456935.6:c.1310-53_1310-52insT	ENSP00000395473.2:n.1310-53_1310-52insT
ENST00000465830.1:n.474-53_474-52insT
ENST00000466794.5:n.1209-53_1209-52insT
ENST00000495617.1:n.433_434insT
NM_000528.3:c.1310-53_1310-52insT	NP_000519.2:n.1310-53_1310-52insT
NM_001173498.1:c.1307-53_1307-52insT	NP_001166969.1:n.1307-53_1307-52insT
XM_005259913.1:c.1313-53_1313-52insT	XP_005259970.1:n.1313-53_1313-52insT
XM_011528017.1:c.209-53_209-52insT	XP_011526319.1:n.209-53_209-52insT
XM_005259913.2:c.1313-53_1313-52insT	XP_005259970.1:n.1313-53_1313-52insT
XM_024451518.1:c.209-53_209-52insT	XP_024307286.1:n.209-53_209-52insT
NM_000528.4:c.1310-53_1310-52insT MANE Select	NP_000519.2:n.1310-53_1310-52insT
NM_001173498.2:c.1307-53_1307-52insT	NP_001166969.1:n.1307-53_1307-52insT