Canonical Allele Identifier: CA993646788

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024007161
• gnomAD v3: 19-12657910-GCAC-G
• gnomAD v4: 19-12657910-GCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657914_12657916del , CM000681.2:g.12657914_12657916del	GRCh38
NC_000019.9:g.12768728_12768730del , CM000681.1:g.12768728_12768730del	GRCh37
NC_000019.8:g.12629728_12629730del	NCBI36
NG_008318.1:g.13865_13867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+150_1309+152del MANE Select	ENSP00000395473.2:n.1309+150_1309+152del
ENST00000221363.8:c.1306+150_1306+152del	ENSP00000221363.4:n.1306+150_1306+152del
ENST00000456935.6:c.1309+150_1309+152del	ENSP00000395473.2:n.1309+150_1309+152del
ENST00000465830.1:n.473+150_473+152del
ENST00000466794.5:n.1208+150_1208+152del
ENST00000495617.1:n.281-153_281-151del
NM_000528.3:c.1309+150_1309+152del	NP_000519.2:n.1309+150_1309+152del
NM_001173498.1:c.1306+150_1306+152del	NP_001166969.1:n.1306+150_1306+152del
XM_005259913.1:c.1312+150_1312+152del	XP_005259970.1:n.1312+150_1312+152del
XM_011528017.1:c.208+150_208+152del	XP_011526319.1:n.208+150_208+152del
XM_005259913.2:c.1312+150_1312+152del	XP_005259970.1:n.1312+150_1312+152del
XM_024451518.1:c.208+150_208+152del	XP_024307286.1:n.208+150_208+152del
NM_000528.4:c.1309+150_1309+152del MANE Select	NP_000519.2:n.1309+150_1309+152del
NM_001173498.2:c.1306+150_1306+152del	NP_001166969.1:n.1306+150_1306+152del