Canonical Allele Identifier: CA505625007

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657473-C-T
• MyVariant Identifiers: chr19:g.12768287C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657473C>T , CM000681.2:g.12657473C>T	GRCh38
NC_000019.9:g.12768287C>T , CM000681.1:g.12768287C>T	GRCh37
NC_000019.8:g.12629287C>T	NCBI36
NG_008318.1:g.14305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1392G>A MANE Select	ENSP00000395473.2:p.Gln464=
ENST00000221363.8:c.1389G>A	ENSP00000221363.4:p.Gln463=
ENST00000456935.6:c.1392G>A	ENSP00000395473.2:p.Gln464=
ENST00000465830.1:n.556G>A
ENST00000466794.5:n.1291G>A
ENST00000495617.1:n.568G>A
ENST00000593686.1:c.2G>A
NM_000528.3:c.1392G>A	NP_000519.2:p.Gln464=
NM_001173498.1:c.1389G>A	NP_001166969.1:p.Gln463=
XM_005259913.1:c.1395G>A	XP_005259970.1:p.Gln465=
XM_011528017.1:c.291G>A	XP_011526319.1:p.Gln97=
XM_005259913.2:c.1395G>A	XP_005259970.1:p.Gln465=
XM_024451518.1:c.291G>A	XP_024307286.1:p.Gln97=
NM_000528.4:c.1392G>A MANE Select	NP_000519.2:p.Gln464=
NM_001173498.2:c.1389G>A	NP_001166969.1:p.Gln463=