Canonical Allele Identifier: CA404256202

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665397-G-T
• MyVariant Identifiers: chr19:g.12776211G>T (hg19) ; chr19:g.12665397G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665397G>T , CM000681.2:g.12665397G>T	GRCh38
NC_000019.9:g.12776211G>T , CM000681.1:g.12776211G>T	GRCh37
NC_000019.8:g.12637211G>T	NCBI36
NG_008318.1:g.6381C>A
NG_015814.1:g.3594G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.391C>A MANE Select	ENSP00000395473.2:p.Gln131Lys
ENST00000221363.8:c.391C>A	ENSP00000221363.4:p.Gln131Lys
ENST00000456935.6:c.391C>A	ENSP00000395473.2:p.Gln131Lys
ENST00000466794.5:n.373C>A
ENST00000486847.2:c.288C>A	ENSP00000470174.1:p.Ser96Arg
ENST00000596512.5:n.329C>A
ENST00000597961.1:c.382C>A	ENSP00000472710.1:p.Gln128Lys
ENST00000598876.1:c.418C>A	ENSP00000470533.1:p.Gln140Lys
ENST00000600281.1:n.432C>A
NM_000528.3:c.391C>A	NP_000519.2:p.Gln131Lys
NM_001173498.1:c.391C>A	NP_001166969.1:p.Gln131Lys
XM_005259913.1:c.391C>A	XP_005259970.1:p.Gln131Lys
XM_005259913.2:c.391C>A	XP_005259970.1:p.Gln131Lys
XM_024451518.1:c.-628C>A	XP_024307286.1:n.-628C>A
NM_000528.4:c.391C>A MANE Select	NP_000519.2:p.Gln131Lys
NM_001173498.2:c.391C>A	NP_001166969.1:p.Gln131Lys