Canonical Allele Identifier: CA404254885

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2238936
• ClinVar RCV Id: RCV002713761
• dbSNP Id: rs2024189870
• gnomAD v3: 19-12664884-C-T
• gnomAD v4: 19-12664884-C-T
• MyVariant Identifiers: chr19:g.12775698C>T (hg19) ; chr19:g.12664884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664884C>T , CM000681.2:g.12664884C>T	GRCh38
NC_000019.9:g.12775698C>T , CM000681.1:g.12775698C>T	GRCh37
NC_000019.8:g.12636698C>T	NCBI36
NG_008318.1:g.6894G>A
NG_015814.1:g.3081C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.538G>A MANE Select	ENSP00000395473.2:p.Glu180Lys
ENST00000221363.8:c.538G>A	ENSP00000221363.4:p.Glu180Lys
ENST00000456935.6:c.538G>A	ENSP00000395473.2:p.Glu180Lys
ENST00000466794.5:n.520G>A
ENST00000486847.2:c.333+468G>A	ENSP00000470174.1:n.333+468G>A
ENST00000596512.5:n.476G>A
ENST00000597961.1:c.529G>A	ENSP00000472710.1:p.Glu177Lys
NM_000528.3:c.538G>A	NP_000519.2:p.Glu180Lys
NM_001173498.1:c.538G>A	NP_001166969.1:p.Glu180Lys
XM_005259913.1:c.538G>A	XP_005259970.1:p.Glu180Lys
XM_005259913.2:c.538G>A	XP_005259970.1:p.Glu180Lys
XM_024451518.1:c.-481G>A	XP_024307286.1:n.-481G>A
NM_000528.4:c.538G>A MANE Select	NP_000519.2:p.Glu180Lys
NM_001173498.2:c.538G>A	NP_001166969.1:p.Glu180Lys