Canonical Allele Identifier: CA505626653

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776530C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665716C>T , CM000681.2:g.12665716C>T	GRCh38
NC_000019.9:g.12776530C>T , CM000681.1:g.12776530C>T	GRCh37
NC_000019.8:g.12637530C>T	NCBI36
NG_008318.1:g.6062G>A
NG_015814.1:g.3913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.249G>A MANE Select	ENSP00000395473.2:p.Gln83=
ENST00000221363.8:c.249G>A	ENSP00000221363.4:p.Gln83=
ENST00000456935.6:c.249G>A	ENSP00000395473.2:p.Gln83=
ENST00000466794.5:n.231G>A
ENST00000486847.2:c.160-191G>A	ENSP00000470174.1:n.160-191G>A
ENST00000596512.5:n.201-191G>A
ENST00000597961.1:c.240G>A	ENSP00000472710.1:p.Gln80=
ENST00000598876.1:c.276G>A	ENSP00000470533.1:p.Gln92=
ENST00000600281.1:n.290G>A
NM_000528.3:c.249G>A	NP_000519.2:p.Gln83=
NM_001173498.1:c.249G>A	NP_001166969.1:p.Gln83=
XM_005259913.1:c.249G>A	XP_005259970.1:p.Gln83=
XM_005259913.2:c.249G>A	XP_005259970.1:p.Gln83=
XM_024451518.1:c.-770G>A	XP_024307286.1:n.-770G>A
NM_000528.4:c.249G>A MANE Select	NP_000519.2:p.Gln83=
NM_001173498.2:c.249G>A	NP_001166969.1:p.Gln83=