Canonical Allele Identifier: CA350998

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655830A>G , CM000681.2:g.12655830A>G	GRCh38
NC_000019.9:g.12766644A>G , CM000681.1:g.12766644A>G	GRCh37
NC_000019.8:g.12627644A>G	NCBI36
NG_008318.1:g.15948T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1694T>C MANE Select	NP_000519.2:p.Leu565Pro
ENST00000456935.7:c.1694T>C MANE Select	ENSP00000395473.2:p.Leu565Pro
NM_000528.3:c.1694T>C	NP_000519.2:p.Leu565Pro
NM_001173498.1:c.1691T>C	NP_001166969.1:p.Leu564Pro
NM_001173498.2:c.1691T>C	NP_001166969.1:p.Leu564Pro
ENST00000221363.8:c.1691T>C	ENSP00000221363.4:p.Leu564Pro
ENST00000433513.5:n.300T>C
ENST00000456935.6:c.1694T>C	ENSP00000395473.2:p.Leu565Pro
ENST00000466794.5:n.2284T>C
ENST00000593686.1:c.287T>C
ENST00000595880.5:n.291T>C
ENST00000596591.1:c.58T>C
XM_005259913.1:c.1697T>C	XP_005259970.1:p.Leu566Pro
XM_005259913.2:c.1697T>C	XP_005259970.1:p.Leu566Pro
XM_011528017.1:c.593T>C	XP_011526319.1:p.Leu198Pro
XM_024451518.1:c.593T>C	XP_024307286.1:p.Leu198Pro