Canonical Allele Identifier: CA505771125

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769277A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658463A>G , CM000681.2:g.12658463A>G	GRCh38
NC_000019.9:g.12769277A>G , CM000681.1:g.12769277A>G	GRCh37
NC_000019.8:g.12630277A>G	NCBI36
NG_008318.1:g.13315T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1074T>C MANE Select	ENSP00000395473.2:p.Cys358=
ENST00000221363.8:c.1071T>C	ENSP00000221363.4:p.Cys357=
ENST00000456935.6:c.1074T>C	ENSP00000395473.2:p.Cys358=
ENST00000465830.1:n.155T>C
ENST00000466794.5:n.1009-119T>C
ENST00000495617.1:n.280+268T>C
NM_000528.3:c.1074T>C	NP_000519.2:p.Cys358=
NM_001173498.1:c.1071T>C	NP_001166969.1:p.Cys357=
XM_005259913.1:c.1077T>C	XP_005259970.1:p.Cys359=
XM_011528017.1:c.9-119T>C	XP_011526319.1:n.9-119T>C
XM_005259913.2:c.1077T>C	XP_005259970.1:p.Cys359=
XM_024451518.1:c.9-119T>C	XP_024307286.1:n.9-119T>C
NM_000528.4:c.1074T>C MANE Select	NP_000519.2:p.Cys358=
NM_001173498.2:c.1071T>C	NP_001166969.1:p.Cys357=