Canonical Allele Identifier: CA404243969

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12652174C>T , CM000681.2:g.12652174C>T	GRCh38
NC_000019.9:g.12762988C>T , CM000681.1:g.12762988C>T	GRCh37
NC_000019.8:g.12623988C>T	NCBI36
NG_008318.1:g.19604G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2025G>A MANE Select	NP_000519.2:p.Trp675Ter
ENST00000456935.7:c.2025G>A MANE Select	ENSP00000395473.2:p.Trp675Ter
NM_000528.3:c.2025G>A	NP_000519.2:p.Trp675Ter
NM_001173498.1:c.2022G>A	NP_001166969.1:p.Trp674Ter
NM_001173498.2:c.2022G>A	NP_001166969.1:p.Trp674Ter
ENST00000221363.8:c.2022G>A	ENSP00000221363.4:p.Trp674Ter
ENST00000456935.6:c.2025G>A	ENSP00000395473.2:p.Trp675Ter
ENST00000466794.5:n.2615G>A
XM_005259913.1:c.2028G>A	XP_005259970.1:p.Trp676Ter
XM_005259913.2:c.2028G>A	XP_005259970.1:p.Trp676Ter
XM_011528017.1:c.924G>A	XP_011526319.1:p.Trp308Ter
XM_024451518.1:c.924G>A	XP_024307286.1:p.Trp308Ter