Canonical Allele Identifier: CA404242878

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760805A>T (hg19) ; chr19:g.12649991A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649991A>T , CM000681.2:g.12649991A>T	GRCh38
NC_000019.9:g.12760805A>T , CM000681.1:g.12760805A>T	GRCh37
NC_000019.8:g.12621805A>T	NCBI36
NG_008318.1:g.21787T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2189T>A MANE Select	ENSP00000395473.2:p.Ile730Asn
ENST00000221363.8:c.2186T>A	ENSP00000221363.4:p.Ile729Asn
ENST00000456935.6:c.2189T>A	ENSP00000395473.2:p.Ile730Asn
ENST00000466794.5:n.2779T>A
NM_000528.3:c.2189T>A	NP_000519.2:p.Ile730Asn
NM_001173498.1:c.2186T>A	NP_001166969.1:p.Ile729Asn
XM_005259913.1:c.2192T>A	XP_005259970.1:p.Ile731Asn
XM_011528017.1:c.1088T>A	XP_011526319.1:p.Ile363Asn
XM_005259913.2:c.2192T>A	XP_005259970.1:p.Ile731Asn
XM_024451518.1:c.1088T>A	XP_024307286.1:p.Ile363Asn
NM_000528.4:c.2189T>A MANE Select	NP_000519.2:p.Ile730Asn
NM_001173498.2:c.2186T>A	NP_001166969.1:p.Ile729Asn