Canonical Allele Identifier: CA2840968737

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655644A>G , CM000681.2:g.12655644A>G	GRCh38
NC_000019.9:g.12766458A>G , CM000681.1:g.12766458A>G	GRCh37
NC_000019.8:g.12627458A>G	NCBI36
NG_008318.1:g.16134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1830+50T>C MANE Select	ENSP00000395473.2:n.1830+50T>C
ENST00000221363.8:c.1827+50T>C	ENSP00000221363.4:n.1827+50T>C
ENST00000433513.5:n.436+50T>C
ENST00000456935.6:c.1830+50T>C	ENSP00000395473.2:n.1830+50T>C
ENST00000466794.5:n.2420+50T>C
ENST00000593686.1:c.423+50T>C
ENST00000595880.5:n.427+50T>C
ENST00000596591.1:c.194+50T>C
NM_000528.3:c.1830+50T>C	NP_000519.2:n.1830+50T>C
NM_001173498.1:c.1827+50T>C	NP_001166969.1:n.1827+50T>C
XM_005259913.1:c.1833+50T>C	XP_005259970.1:n.1833+50T>C
XM_011528017.1:c.729+50T>C	XP_011526319.1:n.729+50T>C
XM_005259913.2:c.1833+50T>C	XP_005259970.1:n.1833+50T>C
XM_024451518.1:c.729+50T>C	XP_024307286.1:n.729+50T>C
NM_000528.4:c.1830+50T>C MANE Select	NP_000519.2:n.1830+50T>C
NM_001173498.2:c.1827+50T>C	NP_001166969.1:n.1827+50T>C