Canonical Allele Identifier: CA404255575

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12775797G>T (hg19) ; chr19:g.12664983G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664983G>T , CM000681.2:g.12664983G>T	GRCh38
NC_000019.9:g.12775797G>T , CM000681.1:g.12775797G>T	GRCh37
NC_000019.8:g.12636797G>T	NCBI36
NG_008318.1:g.6795C>A
NG_015814.1:g.3180G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.439C>A MANE Select	ENSP00000395473.2:p.Arg147Ser
ENST00000221363.8:c.439C>A	ENSP00000221363.4:p.Arg147Ser
ENST00000456935.6:c.439C>A	ENSP00000395473.2:p.Arg147Ser
ENST00000466794.5:n.421C>A
ENST00000486847.2:c.333+369C>A	ENSP00000470174.1:n.333+369C>A
ENST00000596512.5:n.377C>A
ENST00000597961.1:c.430C>A	ENSP00000472710.1:p.Arg144Ser
ENST00000598876.1:c.466C>A	ENSP00000470533.1:p.Arg156Ser
NM_000528.3:c.439C>A	NP_000519.2:p.Arg147Ser
NM_001173498.1:c.439C>A	NP_001166969.1:p.Arg147Ser
XM_005259913.1:c.439C>A	XP_005259970.1:p.Arg147Ser
XM_005259913.2:c.439C>A	XP_005259970.1:p.Arg147Ser
XM_024451518.1:c.-580C>A	XP_024307286.1:n.-580C>A
NM_000528.4:c.439C>A MANE Select	NP_000519.2:p.Arg147Ser
NM_001173498.2:c.439C>A	NP_001166969.1:p.Arg147Ser