Canonical Allele Identifier: CA2582720422

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657263-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657263_12657264insCA , CM000681.2:g.12657263_12657264insCA	GRCh38
NC_000019.9:g.12768077_12768078insCA , CM000681.1:g.12768077_12768078insCA	GRCh37
NC_000019.8:g.12629077_12629078insCA	NCBI36
NG_008318.1:g.14514_14515insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+182_1419+183insTG MANE Select	ENSP00000395473.2:n.1419+182_1419+183insTG
ENST00000221363.8:c.1416+182_1416+183insTG	ENSP00000221363.4:n.1416+182_1416+183insTG
ENST00000456935.6:c.1419+182_1419+183insTG	ENSP00000395473.2:n.1419+182_1419+183insTG
ENST00000466794.5:n.1318+182_1318+183insTG
ENST00000495617.1:n.595+182_595+183insTG
ENST00000593686.1:c.29+182_29+183insTG
ENST00000595880.5:n.16+100_16+101insTG
NM_000528.3:c.1419+182_1419+183insTG	NP_000519.2:n.1419+182_1419+183insTG
NM_001173498.1:c.1416+182_1416+183insTG	NP_001166969.1:n.1416+182_1416+183insTG
XM_005259913.1:c.1422+182_1422+183insTG	XP_005259970.1:n.1422+182_1422+183insTG
XM_011528017.1:c.318+182_318+183insTG	XP_011526319.1:n.318+182_318+183insTG
XM_005259913.2:c.1422+182_1422+183insTG	XP_005259970.1:n.1422+182_1422+183insTG
XM_024451518.1:c.318+182_318+183insTG	XP_024307286.1:n.318+182_318+183insTG
NM_000528.4:c.1419+182_1419+183insTG MANE Select	NP_000519.2:n.1419+182_1419+183insTG
NM_001173498.2:c.1416+182_1416+183insTG	NP_001166969.1:n.1416+182_1416+183insTG