Canonical Allele Identifier: CA505626102

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1347996248
• gnomAD v2: 19-12775663-C-T
• gnomAD v4: 19-12664849-C-T
• MyVariant Identifiers: chr19:g.12775663C>T (hg19) ; chr19:g.12664849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664849C>T , CM000681.2:g.12664849C>T	GRCh38
NC_000019.9:g.12775663C>T , CM000681.1:g.12775663C>T	GRCh37
NC_000019.8:g.12636663C>T	NCBI36
NG_008318.1:g.6929G>A
NG_015814.1:g.3046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.573G>A MANE Select	ENSP00000395473.2:p.Val191=
ENST00000221363.8:c.573G>A	ENSP00000221363.4:p.Val191=
ENST00000456935.6:c.573G>A	ENSP00000395473.2:p.Val191=
ENST00000466794.5:n.555G>A
ENST00000486847.2:c.333+503G>A	ENSP00000470174.1:n.333+503G>A
ENST00000596512.5:n.511G>A
ENST00000597961.1:c.564G>A	ENSP00000472710.1:p.Val188=
NM_000528.3:c.573G>A	NP_000519.2:p.Val191=
NM_001173498.1:c.573G>A	NP_001166969.1:p.Val191=
XM_005259913.1:c.573G>A	XP_005259970.1:p.Val191=
XM_005259913.2:c.573G>A	XP_005259970.1:p.Val191=
XM_024451518.1:c.-446G>A	XP_024307286.1:n.-446G>A
NM_000528.4:c.573G>A MANE Select	NP_000519.2:p.Val191=
NM_001173498.2:c.573G>A	NP_001166969.1:p.Val191=