Canonical Allele Identifier: CA404258391

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665768-T-C
• MyVariant Identifiers: chr19:g.12776582T>C (hg19) ; chr19:g.12665768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665768T>C , CM000681.2:g.12665768T>C	GRCh38
NC_000019.9:g.12776582T>C , CM000681.1:g.12776582T>C	GRCh37
NC_000019.8:g.12637582T>C	NCBI36
NG_008318.1:g.6010A>G
NG_015814.1:g.3965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.197A>G MANE Select	ENSP00000395473.2:p.His66Arg
ENST00000221363.8:c.197A>G	ENSP00000221363.4:p.His66Arg
ENST00000456935.6:c.197A>G	ENSP00000395473.2:p.His66Arg
ENST00000466794.5:n.179A>G
ENST00000486847.2:c.160-243A>G	ENSP00000470174.1:n.160-243A>G
ENST00000596512.5:n.201-243A>G
ENST00000597961.1:c.188A>G	ENSP00000472710.1:p.His63Arg
ENST00000598876.1:c.224A>G	ENSP00000470533.1:p.His75Arg
ENST00000600281.1:n.238A>G
NM_000528.3:c.197A>G	NP_000519.2:p.His66Arg
NM_001173498.1:c.197A>G	NP_001166969.1:p.His66Arg
XM_005259913.1:c.197A>G	XP_005259970.1:p.His66Arg
XM_005259913.2:c.197A>G	XP_005259970.1:p.His66Arg
XM_024451518.1:c.-822A>G	XP_024307286.1:n.-822A>G
NM_000528.4:c.197A>G MANE Select	NP_000519.2:p.His66Arg
NM_001173498.2:c.197A>G	NP_001166969.1:p.His66Arg