Canonical Allele Identifier: CA404252181

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12774215A>C (hg19) ; chr19:g.12663401A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663401A>C , CM000681.2:g.12663401A>C	GRCh38
NC_000019.9:g.12774215A>C , CM000681.1:g.12774215A>C	GRCh37
NC_000019.8:g.12635215A>C	NCBI36
NG_008318.1:g.8377T>G
NG_015814.1:g.1598A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.825T>G MANE Select	ENSP00000395473.2:p.Asp275Glu
ENST00000221363.8:c.825T>G	ENSP00000221363.4:p.Asp275Glu
ENST00000456935.6:c.825T>G	ENSP00000395473.2:p.Asp275Glu
ENST00000462144.1:n.18T>G
ENST00000466794.5:n.807T>G
NM_000528.3:c.825T>G	NP_000519.2:p.Asp275Glu
NM_001173498.1:c.825T>G	NP_001166969.1:p.Asp275Glu
XM_005259913.1:c.825T>G	XP_005259970.1:p.Asp275Glu
XM_005259913.2:c.825T>G	XP_005259970.1:p.Asp275Glu
XM_024451518.1:c.-194T>G	XP_024307286.1:n.-194T>G
NM_000528.4:c.825T>G MANE Select	NP_000519.2:p.Asp275Glu
NM_001173498.2:c.825T>G	NP_001166969.1:p.Asp275Glu