Canonical Allele Identifier: CA404252191

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1173935051
• gnomAD v2: 19-12774217-C-T
• gnomAD v4: 19-12663403-C-T
• COSMIC: COSM4972176
• MyVariant Identifiers: chr19:g.12774217C>T (hg19) ; chr19:g.12663403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663403C>T , CM000681.2:g.12663403C>T	GRCh38
NC_000019.9:g.12774217C>T , CM000681.1:g.12774217C>T	GRCh37
NC_000019.8:g.12635217C>T	NCBI36
NG_008318.1:g.8375G>A
NG_015814.1:g.1600C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.823G>A MANE Select	ENSP00000395473.2:p.Asp275Asn
ENST00000221363.8:c.823G>A	ENSP00000221363.4:p.Asp275Asn
ENST00000456935.6:c.823G>A	ENSP00000395473.2:p.Asp275Asn
ENST00000462144.1:n.16G>A
ENST00000466794.5:n.805G>A
NM_000528.3:c.823G>A	NP_000519.2:p.Asp275Asn
NM_001173498.1:c.823G>A	NP_001166969.1:p.Asp275Asn
XM_005259913.1:c.823G>A	XP_005259970.1:p.Asp275Asn
XM_005259913.2:c.823G>A	XP_005259970.1:p.Asp275Asn
XM_024451518.1:c.-196G>A	XP_024307286.1:n.-196G>A
NM_000528.4:c.823G>A MANE Select	NP_000519.2:p.Asp275Asn
NM_001173498.2:c.823G>A	NP_001166969.1:p.Asp275Asn