Canonical Allele Identifier: CA505625067

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769304G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658490G>T , CM000681.2:g.12658490G>T	GRCh38
NC_000019.9:g.12769304G>T , CM000681.1:g.12769304G>T	GRCh37
NC_000019.8:g.12630304G>T	NCBI36
NG_008318.1:g.13288C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1047C>A MANE Select	ENSP00000395473.2:p.Val349=
ENST00000221363.8:c.1044C>A	ENSP00000221363.4:p.Val348=
ENST00000456935.6:c.1047C>A	ENSP00000395473.2:p.Val349=
ENST00000465830.1:n.128C>A
ENST00000466794.5:n.1009-146C>A
ENST00000495617.1:n.280+241C>A
NM_000528.3:c.1047C>A	NP_000519.2:p.Val349=
NM_001173498.1:c.1044C>A	NP_001166969.1:p.Val348=
XM_005259913.1:c.1050C>A	XP_005259970.1:p.Val350=
XM_011528017.1:c.9-146C>A	XP_011526319.1:n.9-146C>A
XM_005259913.2:c.1050C>A	XP_005259970.1:p.Val350=
XM_024451518.1:c.9-146C>A	XP_024307286.1:n.9-146C>A
NM_000528.4:c.1047C>A MANE Select	NP_000519.2:p.Val349=
NM_001173498.2:c.1044C>A	NP_001166969.1:p.Val348=