Canonical Allele Identifier: CA305479006

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 657499
• ClinVar RCV Id: RCV000814108
• dbSNP Id: rs938995975
• gnomAD v4: 19-12665741-A-T
• MyVariant Identifiers: chr19:g.12776555A>T (hg19) ; chr19:g.12665741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665741A>T , CM000681.2:g.12665741A>T	GRCh38
NC_000019.9:g.12776555A>T , CM000681.1:g.12776555A>T	GRCh37
NC_000019.8:g.12637555A>T	NCBI36
NG_008318.1:g.6037T>A
NG_015814.1:g.3938A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.224T>A MANE Select	ENSP00000395473.2:p.Val75Glu
ENST00000221363.8:c.224T>A	ENSP00000221363.4:p.Val75Glu
ENST00000456935.6:c.224T>A	ENSP00000395473.2:p.Val75Glu
ENST00000466794.5:n.206T>A
ENST00000486847.2:c.160-216T>A	ENSP00000470174.1:n.160-216T>A
ENST00000596512.5:n.201-216T>A
ENST00000597961.1:c.215T>A	ENSP00000472710.1:p.Val72Glu
ENST00000598876.1:c.251T>A	ENSP00000470533.1:p.Val84Glu
ENST00000600281.1:n.265T>A
NM_000528.3:c.224T>A	NP_000519.2:p.Val75Glu
NM_001173498.1:c.224T>A	NP_001166969.1:p.Val75Glu
XM_005259913.1:c.224T>A	XP_005259970.1:p.Val75Glu
XM_005259913.2:c.224T>A	XP_005259970.1:p.Val75Glu
XM_024451518.1:c.-795T>A	XP_024307286.1:n.-795T>A
NM_000528.4:c.224T>A MANE Select	NP_000519.2:p.Val75Glu
NM_001173498.2:c.224T>A	NP_001166969.1:p.Val75Glu