Canonical Allele Identifier: CA404237750

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758288T>A (hg19) ; chr19:g.12647474T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647474T>A , CM000681.2:g.12647474T>A	GRCh38
NC_000019.9:g.12758288T>A , CM000681.1:g.12758288T>A	GRCh37
NC_000019.8:g.12619288T>A	NCBI36
NG_008318.1:g.24304A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2789A>T MANE Select	ENSP00000395473.2:p.Asn930Ile
ENST00000221363.8:c.2786A>T	ENSP00000221363.4:p.Asn929Ile
ENST00000456935.6:c.2789A>T	ENSP00000395473.2:p.Asn930Ile
ENST00000466794.5:n.3379A>T
ENST00000469423.1:n.111A>T
ENST00000493218.5:n.200A>T
ENST00000597692.1:c.348A>T
NM_000528.3:c.2789A>T	NP_000519.2:p.Asn930Ile
NM_001173498.1:c.2786A>T	NP_001166969.1:p.Asn929Ile
XM_005259913.1:c.2792A>T	XP_005259970.1:p.Asn931Ile
XM_011528017.1:c.1688A>T	XP_011526319.1:p.Asn563Ile
XM_005259913.2:c.2792A>T	XP_005259970.1:p.Asn931Ile
XM_024451518.1:c.1688A>T	XP_024307286.1:p.Asn563Ile
NM_000528.4:c.2789A>T MANE Select	NP_000519.2:p.Asn930Ile
NM_001173498.2:c.2786A>T	NP_001166969.1:p.Asn929Ile