Canonical Allele Identifier: CA404244676

Gene: MAN2B1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655693C>T , CM000681.2:g.12655693C>T	GRCh38
NC_000019.9:g.12766507C>T , CM000681.1:g.12766507C>T	GRCh37
NC_000019.8:g.12627507C>T	NCBI36
NG_008318.1:g.16085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1830+1G>A MANE Select	ENSP00000395473.2:n.1830+1G>A
ENST00000221363.8:c.1827+1G>A	ENSP00000221363.4:n.1827+1G>A
ENST00000433513.5:n.436+1G>A
ENST00000456935.6:c.1830+1G>A	ENSP00000395473.2:n.1830+1G>A
ENST00000466794.5:n.2420+1G>A
ENST00000593686.1:c.423+1G>A
ENST00000595880.5:n.427+1G>A
ENST00000596591.1:c.194+1G>A
NM_000528.3:c.1830+1G>A	NP_000519.2:n.1830+1G>A
NM_001173498.1:c.1827+1G>A	NP_001166969.1:n.1827+1G>A
XM_005259913.1:c.1833+1G>A	XP_005259970.1:n.1833+1G>A
XM_011528017.1:c.729+1G>A	XP_011526319.1:n.729+1G>A
XM_005259913.2:c.1833+1G>A	XP_005259970.1:n.1833+1G>A
XM_024451518.1:c.729+1G>A	XP_024307286.1:n.729+1G>A
NM_000528.4:c.1830+1G>A MANE Select	NP_000519.2:n.1830+1G>A
NM_001173498.2:c.1827+1G>A	NP_001166969.1:n.1827+1G>A