Canonical Allele Identifier: CA993647037

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024010622
• gnomAD v3: 19-12657979-A-AAG
• gnomAD v4: 19-12657979-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657980_12657981insGA , CM000681.2:g.12657980_12657981insGA	GRCh38
NC_000019.9:g.12768794_12768795insGA , CM000681.1:g.12768794_12768795insGA	GRCh37
NC_000019.8:g.12629794_12629795insGA	NCBI36
NG_008318.1:g.13798_13799insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+83_1309+84insCT MANE Select	ENSP00000395473.2:n.1309+83_1309+84insCT
ENST00000221363.8:c.1306+83_1306+84insCT	ENSP00000221363.4:n.1306+83_1306+84insCT
ENST00000456935.6:c.1309+83_1309+84insCT	ENSP00000395473.2:n.1309+83_1309+84insCT
ENST00000465830.1:n.473+83_473+84insCT
ENST00000466794.5:n.1208+83_1208+84insCT
ENST00000495617.1:n.281-220_281-219insCT
NM_000528.3:c.1309+83_1309+84insCT	NP_000519.2:n.1309+83_1309+84insCT
NM_001173498.1:c.1306+83_1306+84insCT	NP_001166969.1:n.1306+83_1306+84insCT
XM_005259913.1:c.1312+83_1312+84insCT	XP_005259970.1:n.1312+83_1312+84insCT
XM_011528017.1:c.208+83_208+84insCT	XP_011526319.1:n.208+83_208+84insCT
XM_005259913.2:c.1312+83_1312+84insCT	XP_005259970.1:n.1312+83_1312+84insCT
XM_024451518.1:c.208+83_208+84insCT	XP_024307286.1:n.208+83_208+84insCT
NM_000528.4:c.1309+83_1309+84insCT MANE Select	NP_000519.2:n.1309+83_1309+84insCT
NM_001173498.2:c.1306+83_1306+84insCT	NP_001166969.1:n.1306+83_1306+84insCT