Canonical Allele Identifier: CA9226205

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1501960
• ClinVar RCV Id: RCV002045053
• dbSNP Id: rs778745390
• ExAC: 19:12761018 C / T
• gnomAD v2: 19-12761018-C-T
• gnomAD v3: 19-12650204-C-T
• gnomAD v4: 19-12650204-C-T
• MyVariant Identifiers: chr19:g.12761018C>T (hg19) ; chr19:g.12650204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650204C>T , CM000681.2:g.12650204C>T	GRCh38
NC_000019.9:g.12761018C>T , CM000681.1:g.12761018C>T	GRCh37
NC_000019.8:g.12622018C>T	NCBI36
NG_008318.1:g.21574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2065G>A MANE Select	ENSP00000395473.2:p.Val689Met
ENST00000221363.8:c.2062G>A	ENSP00000221363.4:p.Val688Met
ENST00000456935.6:c.2065G>A	ENSP00000395473.2:p.Val689Met
ENST00000466794.5:n.2655G>A
NM_000528.3:c.2065G>A	NP_000519.2:p.Val689Met
NM_001173498.1:c.2062G>A	NP_001166969.1:p.Val688Met
XM_005259913.1:c.2068G>A	XP_005259970.1:p.Val690Met
XM_011528017.1:c.964G>A	XP_011526319.1:p.Val322Met
XM_005259913.2:c.2068G>A	XP_005259970.1:p.Val690Met
XM_024451518.1:c.964G>A	XP_024307286.1:p.Val322Met
NM_000528.4:c.2065G>A MANE Select	NP_000519.2:p.Val689Met
NM_001173498.2:c.2062G>A	NP_001166969.1:p.Val688Met