Canonical Allele Identifier: CA305460798

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1030271691
• gnomAD v2: 19-12758799-TAC-T
• gnomAD v3: 19-12647985-TAC-T
• gnomAD v4: 19-12647985-TAC-T
• MyVariant Identifiers: chr19:g.12758800_12758801del (hg19) ; chr19:g.12647986_12647987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647989_12647990del , CM000681.2:g.12647989_12647990del	GRCh38
NC_000019.9:g.12758803_12758804del , CM000681.1:g.12758803_12758804del	GRCh37
NC_000019.8:g.12619803_12619804del	NCBI36
NG_008318.1:g.23791_23792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+188_2664+189del MANE Select	ENSP00000395473.2:n.2664+188_2664+189del
ENST00000221363.8:c.2661+188_2661+189del	ENSP00000221363.4:n.2661+188_2661+189del
ENST00000456935.6:c.2664+188_2664+189del	ENSP00000395473.2:n.2664+188_2664+189del
ENST00000466794.5:n.3254+188_3254+189del
ENST00000597692.1:c.223+188_223+189del
NM_000528.3:c.2664+188_2664+189del	NP_000519.2:n.2664+188_2664+189del
NM_001173498.1:c.2661+188_2661+189del	NP_001166969.1:n.2661+188_2661+189del
XM_005259913.1:c.2667+188_2667+189del	XP_005259970.1:n.2667+188_2667+189del
XM_011528017.1:c.1563+188_1563+189del	XP_011526319.1:n.1563+188_1563+189del
XM_005259913.2:c.2667+188_2667+189del	XP_005259970.1:n.2667+188_2667+189del
XM_024451518.1:c.1563+188_1563+189del	XP_024307286.1:n.1563+188_1563+189del
NM_000528.4:c.2664+188_2664+189del MANE Select	NP_000519.2:n.2664+188_2664+189del
NM_001173498.2:c.2661+188_2661+189del	NP_001166969.1:n.2661+188_2661+189del