Canonical Allele Identifier: CA2582720792

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657829-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657829C>A , CM000681.2:g.12657829C>A	GRCh38
NC_000019.9:g.12768643C>A , CM000681.1:g.12768643C>A	GRCh37
NC_000019.8:g.12629643C>A	NCBI36
NG_008318.1:g.13949G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+234G>T MANE Select	ENSP00000395473.2:n.1309+234G>T
ENST00000221363.8:c.1306+234G>T	ENSP00000221363.4:n.1306+234G>T
ENST00000456935.6:c.1309+234G>T	ENSP00000395473.2:n.1309+234G>T
ENST00000465830.1:n.473+234G>T
ENST00000466794.5:n.1208+234G>T
ENST00000495617.1:n.281-69G>T
NM_000528.3:c.1309+234G>T	NP_000519.2:n.1309+234G>T
NM_001173498.1:c.1306+234G>T	NP_001166969.1:n.1306+234G>T
XM_005259913.1:c.1312+234G>T	XP_005259970.1:n.1312+234G>T
XM_011528017.1:c.208+234G>T	XP_011526319.1:n.208+234G>T
XM_005259913.2:c.1312+234G>T	XP_005259970.1:n.1312+234G>T
XM_024451518.1:c.208+234G>T	XP_024307286.1:n.208+234G>T
NM_000528.4:c.1309+234G>T MANE Select	NP_000519.2:n.1309+234G>T
NM_001173498.2:c.1306+234G>T	NP_001166969.1:n.1306+234G>T