Canonical Allele Identifier: CA2582718693

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12650214-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650215_12650216insGA , CM000681.2:g.12650215_12650216insGA	GRCh38
NC_000019.9:g.12761029_12761030insGA , CM000681.1:g.12761029_12761030insGA	GRCh37
NC_000019.8:g.12622029_12622030insGA	NCBI36
NG_008318.1:g.21563_21564insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2054_2055insCT MANE Select	ENSP00000395473.2:p.Leu685PhefsTer29
ENST00000221363.8:c.2051_2052insCT	ENSP00000221363.4:p.Leu684PhefsTer29
ENST00000456935.6:c.2054_2055insCT	ENSP00000395473.2:p.Leu685PhefsTer29
ENST00000466794.5:n.2644_2645insCT
NM_000528.3:c.2054_2055insCT	NP_000519.2:p.Leu685PhefsTer29
NM_001173498.1:c.2051_2052insCT	NP_001166969.1:p.Leu684PhefsTer29
XM_005259913.1:c.2057_2058insCT	XP_005259970.1:p.Leu686PhefsTer29
XM_011528017.1:c.953_954insCT	XP_011526319.1:p.Leu318PhefsTer29
XM_005259913.2:c.2057_2058insCT	XP_005259970.1:p.Leu686PhefsTer29
XM_024451518.1:c.953_954insCT	XP_024307286.1:p.Leu318PhefsTer29
NM_000528.4:c.2054_2055insCT MANE Select	NP_000519.2:p.Leu685PhefsTer29
NM_001173498.2:c.2051_2052insCT	NP_001166969.1:p.Leu684PhefsTer29