Canonical Allele Identifier: CA505626666

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776545G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665731G>A , CM000681.2:g.12665731G>A	GRCh38
NC_000019.9:g.12776545G>A , CM000681.1:g.12776545G>A	GRCh37
NC_000019.8:g.12637545G>A	NCBI36
NG_008318.1:g.6047C>T
NG_015814.1:g.3928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.234C>T MANE Select	ENSP00000395473.2:p.Leu78=
ENST00000221363.8:c.234C>T	ENSP00000221363.4:p.Leu78=
ENST00000456935.6:c.234C>T	ENSP00000395473.2:p.Leu78=
ENST00000466794.5:n.216C>T
ENST00000486847.2:c.160-206C>T	ENSP00000470174.1:n.160-206C>T
ENST00000596512.5:n.201-206C>T
ENST00000597961.1:c.225C>T	ENSP00000472710.1:p.Leu75=
ENST00000598876.1:c.261C>T	ENSP00000470533.1:p.Leu87=
ENST00000600281.1:n.275C>T
NM_000528.3:c.234C>T	NP_000519.2:p.Leu78=
NM_001173498.1:c.234C>T	NP_001166969.1:p.Leu78=
XM_005259913.1:c.234C>T	XP_005259970.1:p.Leu78=
XM_005259913.2:c.234C>T	XP_005259970.1:p.Leu78=
XM_024451518.1:c.-785C>T	XP_024307286.1:n.-785C>T
NM_000528.4:c.234C>T MANE Select	NP_000519.2:p.Leu78=
NM_001173498.2:c.234C>T	NP_001166969.1:p.Leu78=