Canonical Allele Identifier: CA2582720892

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657978-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657978_12657979insTT , CM000681.2:g.12657978_12657979insTT	GRCh38
NC_000019.9:g.12768792_12768793insTT , CM000681.1:g.12768792_12768793insTT	GRCh37
NC_000019.8:g.12629792_12629793insTT	NCBI36
NG_008318.1:g.13799_13800insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+84_1309+85insAA MANE Select	ENSP00000395473.2:n.1309+84_1309+85insAA
ENST00000221363.8:c.1306+84_1306+85insAA	ENSP00000221363.4:n.1306+84_1306+85insAA
ENST00000456935.6:c.1309+84_1309+85insAA	ENSP00000395473.2:n.1309+84_1309+85insAA
ENST00000465830.1:n.473+84_473+85insAA
ENST00000466794.5:n.1208+84_1208+85insAA
ENST00000495617.1:n.281-219_281-218insAA
NM_000528.3:c.1309+84_1309+85insAA	NP_000519.2:n.1309+84_1309+85insAA
NM_001173498.1:c.1306+84_1306+85insAA	NP_001166969.1:n.1306+84_1306+85insAA
XM_005259913.1:c.1312+84_1312+85insAA	XP_005259970.1:n.1312+84_1312+85insAA
XM_011528017.1:c.208+84_208+85insAA	XP_011526319.1:n.208+84_208+85insAA
XM_005259913.2:c.1312+84_1312+85insAA	XP_005259970.1:n.1312+84_1312+85insAA
XM_024451518.1:c.208+84_208+85insAA	XP_024307286.1:n.208+84_208+85insAA
NM_000528.4:c.1309+84_1309+85insAA MANE Select	NP_000519.2:n.1309+84_1309+85insAA
NM_001173498.2:c.1306+84_1306+85insAA	NP_001166969.1:n.1306+84_1306+85insAA