Canonical Allele Identifier: CA505626148

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12775699C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664885C>A , CM000681.2:g.12664885C>A	GRCh38
NC_000019.9:g.12775699C>A , CM000681.1:g.12775699C>A	GRCh37
NC_000019.8:g.12636699C>A	NCBI36
NG_008318.1:g.6893G>T
NG_015814.1:g.3082C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.537G>T MANE Select	ENSP00000395473.2:p.Leu179=
ENST00000221363.8:c.537G>T	ENSP00000221363.4:p.Leu179=
ENST00000456935.6:c.537G>T	ENSP00000395473.2:p.Leu179=
ENST00000466794.5:n.519G>T
ENST00000486847.2:c.333+467G>T	ENSP00000470174.1:n.333+467G>T
ENST00000596512.5:n.475G>T
ENST00000597961.1:c.528G>T	ENSP00000472710.1:p.Leu176=
NM_000528.3:c.537G>T	NP_000519.2:p.Leu179=
NM_001173498.1:c.537G>T	NP_001166969.1:p.Leu179=
XM_005259913.1:c.537G>T	XP_005259970.1:p.Leu179=
XM_005259913.2:c.537G>T	XP_005259970.1:p.Leu179=
XM_024451518.1:c.-482G>T	XP_024307286.1:n.-482G>T
NM_000528.4:c.537G>T MANE Select	NP_000519.2:p.Leu179=
NM_001173498.2:c.537G>T	NP_001166969.1:p.Leu179=