Canonical Allele Identifier: CA9226829

Gene: MAN2B1

Linked Data

• dbSNP Id: rs747326431
• ExAC: 19:12776225 C / T
• gnomAD v2: 19-12776225-C-T
• gnomAD v4: 19-12665411-C-T
• MyVariant Identifiers: chr19:g.12776225C>T (hg19) ; chr19:g.12665411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665411C>T , CM000681.2:g.12665411C>T	GRCh38
NC_000019.9:g.12776225C>T , CM000681.1:g.12776225C>T	GRCh37
NC_000019.8:g.12637225C>T	NCBI36
NG_008318.1:g.6367G>A
NG_015814.1:g.3608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.377G>A MANE Select	ENSP00000395473.2:p.Arg126His
ENST00000221363.8:c.377G>A	ENSP00000221363.4:p.Arg126His
ENST00000456935.6:c.377G>A	ENSP00000395473.2:p.Arg126His
ENST00000466794.5:n.359G>A
ENST00000486847.2:c.274G>A	ENSP00000470174.1:p.Val92Ile
ENST00000596512.5:n.315G>A
ENST00000597961.1:c.368G>A	ENSP00000472710.1:p.Arg123His
ENST00000598876.1:c.404G>A	ENSP00000470533.1:p.Arg135His
ENST00000600281.1:n.418G>A
NM_000528.3:c.377G>A	NP_000519.2:p.Arg126His
NM_001173498.1:c.377G>A	NP_001166969.1:p.Arg126His
XM_005259913.1:c.377G>A	XP_005259970.1:p.Arg126His
XM_005259913.2:c.377G>A	XP_005259970.1:p.Arg126His
XM_024451518.1:c.-642G>A	XP_024307286.1:n.-642G>A
NM_000528.4:c.377G>A MANE Select	NP_000519.2:p.Arg126His
NM_001173498.2:c.377G>A	NP_001166969.1:p.Arg126His