Canonical Allele Identifier: CA404242960

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650006C>T , CM000681.2:g.12650006C>T	GRCh38
NC_000019.9:g.12760820C>T , CM000681.1:g.12760820C>T	GRCh37
NC_000019.8:g.12621820C>T	NCBI36
NG_008318.1:g.21772G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2174G>A MANE Select	NP_000519.2:p.Trp725Ter
ENST00000456935.7:c.2174G>A MANE Select	ENSP00000395473.2:p.Trp725Ter
NM_000528.3:c.2174G>A	NP_000519.2:p.Trp725Ter
NM_001173498.1:c.2171G>A	NP_001166969.1:p.Trp724Ter
NM_001173498.2:c.2171G>A	NP_001166969.1:p.Trp724Ter
ENST00000221363.8:c.2171G>A	ENSP00000221363.4:p.Trp724Ter
ENST00000456935.6:c.2174G>A	ENSP00000395473.2:p.Trp725Ter
ENST00000466794.5:n.2764G>A
XM_005259913.1:c.2177G>A	XP_005259970.1:p.Trp726Ter
XM_005259913.2:c.2177G>A	XP_005259970.1:p.Trp726Ter
XM_011528017.1:c.1073G>A	XP_011526319.1:p.Trp358Ter
XM_024451518.1:c.1073G>A	XP_024307286.1:p.Trp358Ter