Canonical Allele Identifier: CA350932

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12646657A>G , CM000681.2:g.12646657A>G	GRCh38
NC_000019.9:g.12757471A>G , CM000681.1:g.12757471A>G	GRCh37
NC_000019.8:g.12618471A>G	NCBI36
NG_008318.1:g.25121T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2999T>C MANE Select	NP_000519.2:p.Phe1000Ser
ENST00000456935.7:c.2999T>C MANE Select	ENSP00000395473.2:p.Phe1000Ser
NM_000528.3:c.2999T>C	NP_000519.2:p.Phe1000Ser
NM_001173498.1:c.2996T>C	NP_001166969.1:p.Phe999Ser
NM_001173498.2:c.2996T>C	NP_001166969.1:p.Phe999Ser
ENST00000221363.8:c.2996T>C	ENSP00000221363.4:p.Phe999Ser
ENST00000456935.6:c.2999T>C	ENSP00000395473.2:p.Phe1000Ser
ENST00000466794.5:n.3589T>C
ENST00000469423.1:n.428T>C
ENST00000480851.5:n.179T>C
ENST00000493218.5:n.410T>C
ENST00000597692.1:c.558T>C
XM_005259913.1:c.3002T>C	XP_005259970.1:p.Phe1001Ser
XM_005259913.2:c.3002T>C	XP_005259970.1:p.Phe1001Ser
XM_011528017.1:c.1898T>C	XP_011526319.1:p.Phe633Ser
XM_024451518.1:c.1898T>C	XP_024307286.1:p.Phe633Ser