Canonical Allele Identifier: CA404237514

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758133A>G (hg19) ; chr19:g.12647319A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647319A>G , CM000681.2:g.12647319A>G	GRCh38
NC_000019.9:g.12758133A>G , CM000681.1:g.12758133A>G	GRCh37
NC_000019.8:g.12619133A>G	NCBI36
NG_008318.1:g.24459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2837T>C MANE Select	ENSP00000395473.2:p.Phe946Ser
ENST00000221363.8:c.2834T>C	ENSP00000221363.4:p.Phe945Ser
ENST00000456935.6:c.2837T>C	ENSP00000395473.2:p.Phe946Ser
ENST00000466794.5:n.3427T>C
ENST00000469423.1:n.266T>C
ENST00000493218.5:n.248T>C
ENST00000597692.1:c.396T>C
NM_000528.3:c.2837T>C	NP_000519.2:p.Phe946Ser
NM_001173498.1:c.2834T>C	NP_001166969.1:p.Phe945Ser
XM_005259913.1:c.2840T>C	XP_005259970.1:p.Phe947Ser
XM_011528017.1:c.1736T>C	XP_011526319.1:p.Phe579Ser
XM_005259913.2:c.2840T>C	XP_005259970.1:p.Phe947Ser
XM_024451518.1:c.1736T>C	XP_024307286.1:p.Phe579Ser
NM_000528.4:c.2837T>C MANE Select	NP_000519.2:p.Phe946Ser
NM_001173498.2:c.2834T>C	NP_001166969.1:p.Phe945Ser