Canonical Allele Identifier: CA2582718625

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12649863-G-GCCCCAACACCCCCCAGACCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649872_12649873insCCCCCAGACCACCCCCAACAC , CM000681.2:g.12649872_12649873insCCCCCAGACCACCCCCAACAC	GRCh38
NC_000019.9:g.12760686_12760687insCCCCCAGACCACCCCCAACAC , CM000681.1:g.12760686_12760687insCCCCCAGACCACCCCCAACAC	GRCh37
NC_000019.8:g.12621686_12621687insCCCCCAGACCACCCCCAACAC	NCBI36
NG_008318.1:g.21914_21915insGTGGTCTGGGGGGTGTTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2267+49_2267+50insGTGGTCTGGGGGGTGTTGGGG MANE Select	ENSP00000395473.2:n.2267+49_2267+50insGTGGTCTGGGGGGTGTTGGGG
ENST00000221363.8:c.2264+49_2264+50insGTGGTCTGGGGGGTGTTGGGG	ENSP00000221363.4:n.2264+49_2264+50insGTGGTCTGGGGGGTGTTGGGG
ENST00000456935.6:c.2267+49_2267+50insGTGGTCTGGGGGGTGTTGGGG	ENSP00000395473.2:n.2267+49_2267+50insGTGGTCTGGGGGGTGTTGGGG
ENST00000466794.5:n.2857+49_2857+50insGTGGTCTGGGGGGTGTTGGGG
NM_000528.3:c.2267+49_2267+50insGTGGTCTGGGGGGTGTTGGGG	NP_000519.2:n.2267+49_2267+50insGTGGTCTGGGGGGTGTTGGGG
NM_001173498.1:c.2264+49_2264+50insGTGGTCTGGGGGGTGTTGGGG	NP_001166969.1:n.2264+49_2264+50insGTGGTCTGGGGGGTGTTGGGG
XM_005259913.1:c.2270+49_2270+50insGTGGTCTGGGGGGTGTTGGGG	XP_005259970.1:n.2270+49_2270+50insGTGGTCTGGGGGGTGTTGGGG
XM_011528017.1:c.1166+49_1166+50insGTGGTCTGGGGGGTGTTGGGG	XP_011526319.1:n.1166+49_1166+50insGTGGTCTGGGGGGTGTTGGGG
XM_005259913.2:c.2270+49_2270+50insGTGGTCTGGGGGGTGTTGGGG	XP_005259970.1:n.2270+49_2270+50insGTGGTCTGGGGGGTGTTGGGG
XM_024451518.1:c.1166+49_1166+50insGTGGTCTGGGGGGTGTTGGGG	XP_024307286.1:n.1166+49_1166+50insGTGGTCTGGGGGGTGTTGGGG
NM_000528.4:c.2267+49_2267+50insGTGGTCTGGGGGGTGTTGGGG MANE Select	NP_000519.2:n.2267+49_2267+50insGTGGTCTGGGGGGTGTTGGGG
NM_001173498.2:c.2264+49_2264+50insGTGGTCTGGGGGGTGTTGGGG	NP_001166969.1:n.2264+49_2264+50insGTGGTCTGGGGGGTGTTGGGG