Canonical Allele Identifier: CA2576635154

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658585-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658585G>T , CM000681.2:g.12658585G>T	GRCh38
NC_000019.9:g.12769399G>T , CM000681.1:g.12769399G>T	GRCh37
NC_000019.8:g.12630399G>T	NCBI36
NG_008318.1:g.13193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1027-75C>A MANE Select	ENSP00000395473.2:n.1027-75C>A
ENST00000221363.8:c.1027-78C>A	ENSP00000221363.4:n.1027-78C>A
ENST00000456935.6:c.1027-75C>A	ENSP00000395473.2:n.1027-75C>A
ENST00000465830.1:n.33C>A
ENST00000466794.5:n.1009-241C>A
ENST00000495617.1:n.280+146C>A
NM_000528.3:c.1027-75C>A	NP_000519.2:n.1027-75C>A
NM_001173498.1:c.1027-78C>A	NP_001166969.1:n.1027-78C>A
XM_005259913.1:c.1027-72C>A	XP_005259970.1:n.1027-72C>A
XM_011528017.1:c.9-241C>A	XP_011526319.1:n.9-241C>A
XM_005259913.2:c.1027-72C>A	XP_005259970.1:n.1027-72C>A
XM_024451518.1:c.9-241C>A	XP_024307286.1:n.9-241C>A
NM_000528.4:c.1027-75C>A MANE Select	NP_000519.2:n.1027-75C>A
NM_001173498.2:c.1027-78C>A	NP_001166969.1:n.1027-78C>A