Canonical Allele Identifier: CA505624985

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12767865A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657051A>T , CM000681.2:g.12657051A>T	GRCh38
NC_000019.9:g.12767865A>T , CM000681.1:g.12767865A>T	GRCh37
NC_000019.8:g.12628865A>T	NCBI36
NG_008318.1:g.14727T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1425T>A MANE Select	ENSP00000395473.2:p.Leu475=
ENST00000221363.8:c.1422T>A	ENSP00000221363.4:p.Leu474=
ENST00000433513.5:n.31T>A
ENST00000456935.6:c.1425T>A	ENSP00000395473.2:p.Leu475=
ENST00000466794.5:n.1324T>A
ENST00000495617.1:n.601T>A
ENST00000593686.1:c.35T>A
ENST00000595880.5:n.22T>A
NM_000528.3:c.1425T>A	NP_000519.2:p.Leu475=
NM_001173498.1:c.1422T>A	NP_001166969.1:p.Leu474=
XM_005259913.1:c.1428T>A	XP_005259970.1:p.Leu476=
XM_011528017.1:c.324T>A	XP_011526319.1:p.Leu108=
XM_005259913.2:c.1428T>A	XP_005259970.1:p.Leu476=
XM_024451518.1:c.324T>A	XP_024307286.1:p.Leu108=
NM_000528.4:c.1425T>A MANE Select	NP_000519.2:p.Leu475=
NM_001173498.2:c.1422T>A	NP_001166969.1:p.Leu474=