Canonical Allele Identifier: CA404243208

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023807750
• gnomAD v3: 19-12650131-T-A
• gnomAD v4: 19-12650131-T-A
• MyVariant Identifiers: chr19:g.12760945T>A (hg19) ; chr19:g.12650131T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650131T>A , CM000681.2:g.12650131T>A	GRCh38
NC_000019.9:g.12760945T>A , CM000681.1:g.12760945T>A	GRCh37
NC_000019.8:g.12621945T>A	NCBI36
NG_008318.1:g.21647A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2138A>T MANE Select	ENSP00000395473.2:p.Glu713Val
ENST00000221363.8:c.2135A>T	ENSP00000221363.4:p.Glu712Val
ENST00000456935.6:c.2138A>T	ENSP00000395473.2:p.Glu713Val
ENST00000466794.5:n.2728A>T
NM_000528.3:c.2138A>T	NP_000519.2:p.Glu713Val
NM_001173498.1:c.2135A>T	NP_001166969.1:p.Glu712Val
XM_005259913.1:c.2141A>T	XP_005259970.1:p.Glu714Val
XM_011528017.1:c.1037A>T	XP_011526319.1:p.Glu346Val
XM_005259913.2:c.2141A>T	XP_005259970.1:p.Glu714Val
XM_024451518.1:c.1037A>T	XP_024307286.1:p.Glu346Val
NM_000528.4:c.2138A>T MANE Select	NP_000519.2:p.Glu713Val
NM_001173498.2:c.2135A>T	NP_001166969.1:p.Glu712Val