Canonical Allele Identifier: CA2582720411

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657254-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657254_12657255insTC , CM000681.2:g.12657254_12657255insTC	GRCh38
NC_000019.9:g.12768068_12768069insTC , CM000681.1:g.12768068_12768069insTC	GRCh37
NC_000019.8:g.12629068_12629069insTC	NCBI36
NG_008318.1:g.14523_14524insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+191_1419+192insGA MANE Select	ENSP00000395473.2:n.1419+191_1419+192insGA
ENST00000221363.8:c.1416+191_1416+192insGA	ENSP00000221363.4:n.1416+191_1416+192insGA
ENST00000456935.6:c.1419+191_1419+192insGA	ENSP00000395473.2:n.1419+191_1419+192insGA
ENST00000466794.5:n.1318+191_1318+192insGA
ENST00000495617.1:n.595+191_595+192insGA
ENST00000593686.1:c.29+191_29+192insGA
ENST00000595880.5:n.16+109_16+110insGA
NM_000528.3:c.1419+191_1419+192insGA	NP_000519.2:n.1419+191_1419+192insGA
NM_001173498.1:c.1416+191_1416+192insGA	NP_001166969.1:n.1416+191_1416+192insGA
XM_005259913.1:c.1422+191_1422+192insGA	XP_005259970.1:n.1422+191_1422+192insGA
XM_011528017.1:c.318+191_318+192insGA	XP_011526319.1:n.318+191_318+192insGA
XM_005259913.2:c.1422+191_1422+192insGA	XP_005259970.1:n.1422+191_1422+192insGA
XM_024451518.1:c.318+191_318+192insGA	XP_024307286.1:n.318+191_318+192insGA
NM_000528.4:c.1419+191_1419+192insGA MANE Select	NP_000519.2:n.1419+191_1419+192insGA
NM_001173498.2:c.1416+191_1416+192insGA	NP_001166969.1:n.1416+191_1416+192insGA