Canonical Allele Identifier: CA404243152

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760934C>T (hg19) ; chr19:g.12650120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650120C>T , CM000681.2:g.12650120C>T	GRCh38
NC_000019.9:g.12760934C>T , CM000681.1:g.12760934C>T	GRCh37
NC_000019.8:g.12621934C>T	NCBI36
NG_008318.1:g.21658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2149G>A MANE Select	ENSP00000395473.2:p.Gly717Arg
ENST00000221363.8:c.2146G>A	ENSP00000221363.4:p.Gly716Arg
ENST00000456935.6:c.2149G>A	ENSP00000395473.2:p.Gly717Arg
ENST00000466794.5:n.2739G>A
NM_000528.3:c.2149G>A	NP_000519.2:p.Gly717Arg
NM_001173498.1:c.2146G>A	NP_001166969.1:p.Gly716Arg
XM_005259913.1:c.2152G>A	XP_005259970.1:p.Gly718Arg
XM_011528017.1:c.1048G>A	XP_011526319.1:p.Gly350Arg
XM_005259913.2:c.2152G>A	XP_005259970.1:p.Gly718Arg
XM_024451518.1:c.1048G>A	XP_024307286.1:p.Gly350Arg
NM_000528.4:c.2149G>A MANE Select	NP_000519.2:p.Gly717Arg
NM_001173498.2:c.2146G>A	NP_001166969.1:p.Gly716Arg