Canonical Allele Identifier: CA783384604

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1159544785
• gnomAD v3: 19-12647949-TTGG-T
• gnomAD v4: 19-12647949-TTGG-T
• MyVariant Identifiers: chr19:g.12758764_12758766del (hg19) ; chr19:g.12647950_12647952del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647954_12647956del , CM000681.2:g.12647954_12647956del	GRCh38
NC_000019.9:g.12758768_12758770del , CM000681.1:g.12758768_12758770del	GRCh37
NC_000019.8:g.12619768_12619770del	NCBI36
NG_008318.1:g.23826_23828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+223_2664+225del MANE Select	ENSP00000395473.2:n.2664+223_2664+225del
ENST00000221363.8:c.2661+223_2661+225del	ENSP00000221363.4:n.2661+223_2661+225del
ENST00000456935.6:c.2664+223_2664+225del	ENSP00000395473.2:n.2664+223_2664+225del
ENST00000466794.5:n.3254+223_3254+225del
ENST00000597692.1:c.223+223_223+225del
NM_000528.3:c.2664+223_2664+225del	NP_000519.2:n.2664+223_2664+225del
NM_001173498.1:c.2661+223_2661+225del	NP_001166969.1:n.2661+223_2661+225del
XM_005259913.1:c.2667+223_2667+225del	XP_005259970.1:n.2667+223_2667+225del
XM_011528017.1:c.1563+223_1563+225del	XP_011526319.1:n.1563+223_1563+225del
XM_005259913.2:c.2667+223_2667+225del	XP_005259970.1:n.2667+223_2667+225del
XM_024451518.1:c.1563+223_1563+225del	XP_024307286.1:n.1563+223_1563+225del
NM_000528.4:c.2664+223_2664+225del MANE Select	NP_000519.2:n.2664+223_2664+225del
NM_001173498.2:c.2661+223_2661+225del	NP_001166969.1:n.2661+223_2661+225del