Canonical Allele Identifier: CA505770896

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658094-T-G
• MyVariant Identifiers: chr19:g.12768908T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658094T>G , CM000681.2:g.12658094T>G	GRCh38
NC_000019.9:g.12768908T>G , CM000681.1:g.12768908T>G	GRCh37
NC_000019.8:g.12629908T>G	NCBI36
NG_008318.1:g.13684A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1278A>C MANE Select	ENSP00000395473.2:p.Gly426=
ENST00000221363.8:c.1275A>C	ENSP00000221363.4:p.Gly425=
ENST00000456935.6:c.1278A>C	ENSP00000395473.2:p.Gly426=
ENST00000465830.1:n.442A>C
ENST00000466794.5:n.1177A>C
ENST00000495617.1:n.281-334A>C
NM_000528.3:c.1278A>C	NP_000519.2:p.Gly426=
NM_001173498.1:c.1275A>C	NP_001166969.1:p.Gly425=
XM_005259913.1:c.1281A>C	XP_005259970.1:p.Gly427=
XM_011528017.1:c.177A>C	XP_011526319.1:p.Gly59=
XM_005259913.2:c.1281A>C	XP_005259970.1:p.Gly427=
XM_024451518.1:c.177A>C	XP_024307286.1:p.Gly59=
NM_000528.4:c.1278A>C MANE Select	NP_000519.2:p.Gly426=
NM_001173498.2:c.1275A>C	NP_001166969.1:p.Gly425=