Canonical Allele Identifier: CA404252582

Gene: MAN2B1

Linked Data

• dbSNP Id: rs570471233
• gnomAD v2: 19-12774531-G-T
• MyVariant Identifiers: chr19:g.12774531G>T (hg19) ; chr19:g.12663717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663717G>T , CM000681.2:g.12663717G>T	GRCh38
NC_000019.9:g.12774531G>T , CM000681.1:g.12774531G>T	GRCh37
NC_000019.8:g.12635531G>T	NCBI36
NG_008318.1:g.8061C>A
NG_015814.1:g.1914G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.749C>A MANE Select	ENSP00000395473.2:p.Ala250Glu
ENST00000221363.8:c.749C>A	ENSP00000221363.4:p.Ala250Glu
ENST00000456935.6:c.749C>A	ENSP00000395473.2:p.Ala250Glu
ENST00000466794.5:n.731C>A
ENST00000486847.2:c.452C>A	ENSP00000470174.1:p.Ala151Glu
NM_000528.3:c.749C>A	NP_000519.2:p.Ala250Glu
NM_001173498.1:c.749C>A	NP_001166969.1:p.Ala250Glu
XM_005259913.1:c.749C>A	XP_005259970.1:p.Ala250Glu
XM_005259913.2:c.749C>A	XP_005259970.1:p.Ala250Glu
XM_024451518.1:c.-270C>A	XP_024307286.1:n.-270C>A
NM_000528.4:c.749C>A MANE Select	NP_000519.2:p.Ala250Glu
NM_001173498.2:c.749C>A	NP_001166969.1:p.Ala250Glu