Canonical Allele Identifier: CA783349202

Gene: MAN2B1

Linked Data

• dbSNP Id: rs35296973
• gnomAD v3: 19-12657954-C-CAA
• gnomAD v4: 19-12657954-C-CAA
• MyVariant Identifiers: chr19:g.12768768_12768769insAA (hg19) ; chr19:g.12657954_12657955insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657980_12657981dup , CM000681.2:g.12657980_12657981dup	GRCh38
NC_000019.9:g.12768794_12768795dup , CM000681.1:g.12768794_12768795dup	GRCh37
NC_000019.8:g.12629794_12629795dup	NCBI36
NG_008318.1:g.13822_13823dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+107_1309+108dup MANE Select	ENSP00000395473.2:n.1309+107_1309+108dup
ENST00000221363.8:c.1306+107_1306+108dup	ENSP00000221363.4:n.1306+107_1306+108dup
ENST00000456935.6:c.1309+107_1309+108dup	ENSP00000395473.2:n.1309+107_1309+108dup
ENST00000465830.1:n.473+107_473+108dup
ENST00000466794.5:n.1208+107_1208+108dup
ENST00000495617.1:n.281-196_281-195dup
NM_000528.3:c.1309+107_1309+108dup	NP_000519.2:n.1309+107_1309+108dup
NM_001173498.1:c.1306+107_1306+108dup	NP_001166969.1:n.1306+107_1306+108dup
XM_005259913.1:c.1312+107_1312+108dup	XP_005259970.1:n.1312+107_1312+108dup
XM_011528017.1:c.208+107_208+108dup	XP_011526319.1:n.208+107_208+108dup
XM_005259913.2:c.1312+107_1312+108dup	XP_005259970.1:n.1312+107_1312+108dup
XM_024451518.1:c.208+107_208+108dup	XP_024307286.1:n.208+107_208+108dup
NM_000528.4:c.1309+107_1309+108dup MANE Select	NP_000519.2:n.1309+107_1309+108dup
NM_001173498.2:c.1306+107_1306+108dup	NP_001166969.1:n.1306+107_1306+108dup