Canonical Allele Identifier: CA993646854

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12657942-G-GTA
• gnomAD v4: 19-12657942-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657942_12657943insTA , CM000681.2:g.12657942_12657943insTA	GRCh38
NC_000019.9:g.12768756_12768757insTA , CM000681.1:g.12768756_12768757insTA	GRCh37
NC_000019.8:g.12629756_12629757insTA	NCBI36
NG_008318.1:g.13835_13836insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+120_1309+121insTA MANE Select	ENSP00000395473.2:n.1309+120_1309+121insTA
ENST00000221363.8:c.1306+120_1306+121insTA	ENSP00000221363.4:n.1306+120_1306+121insTA
ENST00000456935.6:c.1309+120_1309+121insTA	ENSP00000395473.2:n.1309+120_1309+121insTA
ENST00000465830.1:n.473+120_473+121insTA
ENST00000466794.5:n.1208+120_1208+121insTA
ENST00000495617.1:n.281-183_281-182insTA
NM_000528.3:c.1309+120_1309+121insTA	NP_000519.2:n.1309+120_1309+121insTA
NM_001173498.1:c.1306+120_1306+121insTA	NP_001166969.1:n.1306+120_1306+121insTA
XM_005259913.1:c.1312+120_1312+121insTA	XP_005259970.1:n.1312+120_1312+121insTA
XM_011528017.1:c.208+120_208+121insTA	XP_011526319.1:n.208+120_208+121insTA
XM_005259913.2:c.1312+120_1312+121insTA	XP_005259970.1:n.1312+120_1312+121insTA
XM_024451518.1:c.208+120_208+121insTA	XP_024307286.1:n.208+120_208+121insTA
NM_000528.4:c.1309+120_1309+121insTA MANE Select	NP_000519.2:n.1309+120_1309+121insTA
NM_001173498.2:c.1306+120_1306+121insTA	NP_001166969.1:n.1306+120_1306+121insTA