Canonical Allele Identifier: CA631835326

Gene: MAN2B1

Linked Data

• gnomAD v2: 19-12768056-G-GCCCC
• gnomAD v3: 19-12657242-G-GCCCC
• gnomAD v4: 19-12657242-G-GCCCC
• MyVariant Identifiers: chr19:g.12768056_12768057insCCCC (hg19) ; chr19:g.12657242_12657243insCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657243_12657246dup , CM000681.2:g.12657243_12657246dup	GRCh38
NC_000019.9:g.12768057_12768060dup , CM000681.1:g.12768057_12768060dup	GRCh37
NC_000019.8:g.12629057_12629060dup	NCBI36
NG_008318.1:g.14532_14535dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-190_1420-187dup MANE Select	ENSP00000395473.2:n.1420-190_1420-187dup
ENST00000221363.8:c.1417-190_1417-187dup	ENSP00000221363.4:n.1417-190_1417-187dup
ENST00000456935.6:c.1420-190_1420-187dup	ENSP00000395473.2:n.1420-190_1420-187dup
ENST00000466794.5:n.1319-190_1319-187dup
ENST00000495617.1:n.596-190_596-187dup
ENST00000593686.1:c.30-190_30-187dup
ENST00000595880.5:n.16+118_16+121dup
NM_000528.3:c.1420-190_1420-187dup	NP_000519.2:n.1420-190_1420-187dup
NM_001173498.1:c.1417-190_1417-187dup	NP_001166969.1:n.1417-190_1417-187dup
XM_005259913.1:c.1423-190_1423-187dup	XP_005259970.1:n.1423-190_1423-187dup
XM_011528017.1:c.319-190_319-187dup	XP_011526319.1:n.319-190_319-187dup
XM_005259913.2:c.1423-190_1423-187dup	XP_005259970.1:n.1423-190_1423-187dup
XM_024451518.1:c.319-190_319-187dup	XP_024307286.1:n.319-190_319-187dup
NM_000528.4:c.1420-190_1420-187dup MANE Select	NP_000519.2:n.1420-190_1420-187dup
NM_001173498.2:c.1417-190_1417-187dup	NP_001166969.1:n.1417-190_1417-187dup