Canonical Allele Identifier: CA404241225

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760005A>T (hg19) ; chr19:g.12649191A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649191A>T , CM000681.2:g.12649191A>T	GRCh38
NC_000019.9:g.12760005A>T , CM000681.1:g.12760005A>T	GRCh37
NC_000019.8:g.12621005A>T	NCBI36
NG_008318.1:g.22587T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2381T>A MANE Select	ENSP00000395473.2:p.Leu794Gln
ENST00000221363.8:c.2378T>A	ENSP00000221363.4:p.Leu793Gln
ENST00000456935.6:c.2381T>A	ENSP00000395473.2:p.Leu794Gln
ENST00000466794.5:n.2971T>A
NM_000528.3:c.2381T>A	NP_000519.2:p.Leu794Gln
NM_001173498.1:c.2378T>A	NP_001166969.1:p.Leu793Gln
XM_005259913.1:c.2384T>A	XP_005259970.1:p.Leu795Gln
XM_011528017.1:c.1280T>A	XP_011526319.1:p.Leu427Gln
XM_005259913.2:c.2384T>A	XP_005259970.1:p.Leu795Gln
XM_024451518.1:c.1280T>A	XP_024307286.1:p.Leu427Gln
NM_000528.4:c.2381T>A MANE Select	NP_000519.2:p.Leu794Gln
NM_001173498.2:c.2378T>A	NP_001166969.1:p.Leu793Gln