Canonical Allele Identifier: CA305470559

Gene: MAN2B1

Linked Data

• dbSNP Id: rs945847438
• MyVariant Identifiers: chr19:g.12768114_12768116del (hg19) ; chr19:g.12657300_12657302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657301_12657303del , CM000681.2:g.12657301_12657303del	GRCh38
NC_000019.9:g.12768115_12768117del , CM000681.1:g.12768115_12768117del	GRCh37
NC_000019.8:g.12629115_12629117del	NCBI36
NG_008318.1:g.14476_14478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+144_1419+146del MANE Select	ENSP00000395473.2:n.1419+144_1419+146del
ENST00000221363.8:c.1416+144_1416+146del	ENSP00000221363.4:n.1416+144_1416+146del
ENST00000456935.6:c.1419+144_1419+146del	ENSP00000395473.2:n.1419+144_1419+146del
ENST00000466794.5:n.1318+144_1318+146del
ENST00000495617.1:n.595+144_595+146del
ENST00000593686.1:c.29+144_29+146del
ENST00000595880.5:n.16+62_16+64del
NM_000528.3:c.1419+144_1419+146del	NP_000519.2:n.1419+144_1419+146del
NM_001173498.1:c.1416+144_1416+146del	NP_001166969.1:n.1416+144_1416+146del
XM_005259913.1:c.1422+144_1422+146del	XP_005259970.1:n.1422+144_1422+146del
XM_011528017.1:c.318+144_318+146del	XP_011526319.1:n.318+144_318+146del
XM_005259913.2:c.1422+144_1422+146del	XP_005259970.1:n.1422+144_1422+146del
XM_024451518.1:c.318+144_318+146del	XP_024307286.1:n.318+144_318+146del
NM_000528.4:c.1419+144_1419+146del MANE Select	NP_000519.2:n.1419+144_1419+146del
NM_001173498.2:c.1416+144_1416+146del	NP_001166969.1:n.1416+144_1416+146del