Canonical Allele Identifier: CA2582718610

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12649858-C-CCCTGGCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649859_12649860insCTGGCCCCCAC , CM000681.2:g.12649859_12649860insCTGGCCCCCAC	GRCh38
NC_000019.9:g.12760673_12760674insCTGGCCCCCAC , CM000681.1:g.12760673_12760674insCTGGCCCCCAC	GRCh37
NC_000019.8:g.12621673_12621674insCTGGCCCCCAC	NCBI36
NG_008318.1:g.21919_21920insTGGGGGCCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2267+54_2267+55insTGGGGGCCAGG MANE Select	ENSP00000395473.2:n.2267+54_2267+55insTGGGGGCCAGG
ENST00000221363.8:c.2264+54_2264+55insTGGGGGCCAGG	ENSP00000221363.4:n.2264+54_2264+55insTGGGGGCCAGG
ENST00000456935.6:c.2267+54_2267+55insTGGGGGCCAGG	ENSP00000395473.2:n.2267+54_2267+55insTGGGGGCCAGG
ENST00000466794.5:n.2857+54_2857+55insTGGGGGCCAGG
NM_000528.3:c.2267+54_2267+55insTGGGGGCCAGG	NP_000519.2:n.2267+54_2267+55insTGGGGGCCAGG
NM_001173498.1:c.2264+54_2264+55insTGGGGGCCAGG	NP_001166969.1:n.2264+54_2264+55insTGGGGGCCAGG
XM_005259913.1:c.2270+54_2270+55insTGGGGGCCAGG	XP_005259970.1:n.2270+54_2270+55insTGGGGGCCAGG
XM_011528017.1:c.1166+54_1166+55insTGGGGGCCAGG	XP_011526319.1:n.1166+54_1166+55insTGGGGGCCAGG
XM_005259913.2:c.2270+54_2270+55insTGGGGGCCAGG	XP_005259970.1:n.2270+54_2270+55insTGGGGGCCAGG
XM_024451518.1:c.1166+54_1166+55insTGGGGGCCAGG	XP_024307286.1:n.1166+54_1166+55insTGGGGGCCAGG
NM_000528.4:c.2267+54_2267+55insTGGGGGCCAGG MANE Select	NP_000519.2:n.2267+54_2267+55insTGGGGGCCAGG
NM_001173498.2:c.2264+54_2264+55insTGGGGGCCAGG	NP_001166969.1:n.2264+54_2264+55insTGGGGGCCAGG