Canonical Allele Identifier: CA404256227

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1895589
• ClinVar RCV Id: RCV002574789
• MyVariant Identifiers: chr19:g.12776215G>A (hg19) ; chr19:g.12665401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665401G>A , CM000681.2:g.12665401G>A	GRCh38
NC_000019.9:g.12776215G>A , CM000681.1:g.12776215G>A	GRCh37
NC_000019.8:g.12637215G>A	NCBI36
NG_008318.1:g.6377C>T
NG_015814.1:g.3598G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.387C>T MANE Select	ENSP00000395473.2:p.His129=
ENST00000221363.8:c.387C>T	ENSP00000221363.4:p.His129=
ENST00000456935.6:c.387C>T	ENSP00000395473.2:p.His129=
ENST00000466794.5:n.369C>T
ENST00000486847.2:c.284C>T	ENSP00000470174.1:p.Thr95Ile
ENST00000596512.5:n.325C>T
ENST00000597961.1:c.378C>T	ENSP00000472710.1:p.His126=
ENST00000598876.1:c.414C>T	ENSP00000470533.1:p.His138=
ENST00000600281.1:n.428C>T
NM_000528.3:c.387C>T	NP_000519.2:p.His129=
NM_001173498.1:c.387C>T	NP_001166969.1:p.His129=
XM_005259913.1:c.387C>T	XP_005259970.1:p.His129=
XM_005259913.2:c.387C>T	XP_005259970.1:p.His129=
XM_024451518.1:c.-632C>T	XP_024307286.1:n.-632C>T
NM_000528.4:c.387C>T MANE Select	NP_000519.2:p.His129=
NM_001173498.2:c.387C>T	NP_001166969.1:p.His129=