Canonical Allele Identifier: CA2582721025

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658473-G-GTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658475_12658476insCTG , CM000681.2:g.12658475_12658476insCTG	GRCh38
NC_000019.9:g.12769289_12769290insCTG , CM000681.1:g.12769289_12769290insCTG	GRCh37
NC_000019.8:g.12630289_12630290insCTG	NCBI36
NG_008318.1:g.13304_13305insGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1063_1064insGCA MANE Select	ENSP00000395473.2:p.Ser354_Thr355insSer
ENST00000221363.8:c.1060_1061insGCA	ENSP00000221363.4:p.Ser353_Thr354insSer
ENST00000456935.6:c.1063_1064insGCA	ENSP00000395473.2:p.Ser354_Thr355insSer
ENST00000465830.1:n.144_145insGCA
ENST00000466794.5:n.1009-130_1009-129insGCA
ENST00000495617.1:n.280+257_280+258insGCA
NM_000528.3:c.1063_1064insGCA	NP_000519.2:p.Ser354_Thr355insSer
NM_001173498.1:c.1060_1061insGCA	NP_001166969.1:p.Ser353_Thr354insSer
XM_005259913.1:c.1066_1067insGCA	XP_005259970.1:p.Ser355_Thr356insSer
XM_011528017.1:c.9-130_9-129insGCA	XP_011526319.1:n.9-130_9-129insGCA
XM_005259913.2:c.1066_1067insGCA	XP_005259970.1:p.Ser355_Thr356insSer
XM_024451518.1:c.9-130_9-129insGCA	XP_024307286.1:n.9-130_9-129insGCA
NM_000528.4:c.1063_1064insGCA MANE Select	NP_000519.2:p.Ser354_Thr355insSer
NM_001173498.2:c.1060_1061insGCA	NP_001166969.1:p.Ser353_Thr354insSer