Canonical Allele Identifier: CA404238211

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758399C>G (hg19) ; chr19:g.12647585C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647585C>G , CM000681.2:g.12647585C>G	GRCh38
NC_000019.9:g.12758399C>G , CM000681.1:g.12758399C>G	GRCh37
NC_000019.8:g.12619399C>G	NCBI36
NG_008318.1:g.24193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2678G>C MANE Select	ENSP00000395473.2:p.Arg893Pro
ENST00000221363.8:c.2675G>C	ENSP00000221363.4:p.Arg892Pro
ENST00000456935.6:c.2678G>C	ENSP00000395473.2:p.Arg893Pro
ENST00000466794.5:n.3268G>C
ENST00000493218.5:n.89G>C
ENST00000597692.1:c.237G>C
NM_000528.3:c.2678G>C	NP_000519.2:p.Arg893Pro
NM_001173498.1:c.2675G>C	NP_001166969.1:p.Arg892Pro
XM_005259913.1:c.2681G>C	XP_005259970.1:p.Arg894Pro
XM_011528017.1:c.1577G>C	XP_011526319.1:p.Arg526Pro
XM_005259913.2:c.2681G>C	XP_005259970.1:p.Arg894Pro
XM_024451518.1:c.1577G>C	XP_024307286.1:p.Arg526Pro
NM_000528.4:c.2678G>C MANE Select	NP_000519.2:p.Arg893Pro
NM_001173498.2:c.2675G>C	NP_001166969.1:p.Arg892Pro