Canonical Allele Identifier: CA9226638

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1365271
• ClinVar RCV Id: RCV001929749
• dbSNP Id: rs574049175
• ExAC: 19:12772078 G / A
• gnomAD v2: 19-12772078-G-A
• gnomAD v3: 19-12661264-G-A
• gnomAD v4: 19-12661264-G-A
• COSMIC: COSM1390611
• MyVariant Identifiers: chr19:g.12772078G>A (hg19) ; chr19:g.12661264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661264G>A , CM000681.2:g.12661264G>A	GRCh38
NC_000019.9:g.12772078G>A , CM000681.1:g.12772078G>A	GRCh37
NC_000019.8:g.12633078G>A	NCBI36
NG_008318.1:g.10514C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1022C>T MANE Select	ENSP00000395473.2:p.Ala341Val
ENST00000221363.8:c.1022C>T	ENSP00000221363.4:p.Ala341Val
ENST00000456935.6:c.1022C>T	ENSP00000395473.2:p.Ala341Val
ENST00000462144.1:n.215C>T
ENST00000466794.5:n.1004C>T
NM_000528.3:c.1022C>T	NP_000519.2:p.Ala341Val
NM_001173498.1:c.1022C>T	NP_001166969.1:p.Ala341Val
XM_005259913.1:c.1022C>T	XP_005259970.1:p.Ala341Val
XM_011528017.1:c.4C>T	XP_011526319.1:p.Arg2Cys
XM_005259913.2:c.1022C>T	XP_005259970.1:p.Ala341Val
XM_024451518.1:c.4C>T	XP_024307286.1:p.Arg2Cys
NM_000528.4:c.1022C>T MANE Select	NP_000519.2:p.Ala341Val
NM_001173498.2:c.1022C>T	NP_001166969.1:p.Ala341Val