Canonical Allele Identifier: CA404252188

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12774217C>A (hg19) ; chr19:g.12663403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663403C>A , CM000681.2:g.12663403C>A	GRCh38
NC_000019.9:g.12774217C>A , CM000681.1:g.12774217C>A	GRCh37
NC_000019.8:g.12635217C>A	NCBI36
NG_008318.1:g.8375G>T
NG_015814.1:g.1600C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.823G>T MANE Select	ENSP00000395473.2:p.Asp275Tyr
ENST00000221363.8:c.823G>T	ENSP00000221363.4:p.Asp275Tyr
ENST00000456935.6:c.823G>T	ENSP00000395473.2:p.Asp275Tyr
ENST00000462144.1:n.16G>T
ENST00000466794.5:n.805G>T
NM_000528.3:c.823G>T	NP_000519.2:p.Asp275Tyr
NM_001173498.1:c.823G>T	NP_001166969.1:p.Asp275Tyr
XM_005259913.1:c.823G>T	XP_005259970.1:p.Asp275Tyr
XM_005259913.2:c.823G>T	XP_005259970.1:p.Asp275Tyr
XM_024451518.1:c.-196G>T	XP_024307286.1:n.-196G>T
NM_000528.4:c.823G>T MANE Select	NP_000519.2:p.Asp275Tyr
NM_001173498.2:c.823G>T	NP_001166969.1:p.Asp275Tyr