Canonical Allele Identifier: CA404256483

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2976603
• ClinVar RCV Id: RCV003838737
• MyVariant Identifiers: chr19:g.12776236G>A (hg19) ; chr19:g.12665422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665422G>A , CM000681.2:g.12665422G>A	GRCh38
NC_000019.9:g.12776236G>A , CM000681.1:g.12776236G>A	GRCh37
NC_000019.8:g.12637236G>A	NCBI36
NG_008318.1:g.6356C>T
NG_015814.1:g.3619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.366C>T MANE Select	ENSP00000395473.2:p.Ala122=
ENST00000221363.8:c.366C>T	ENSP00000221363.4:p.Ala122=
ENST00000456935.6:c.366C>T	ENSP00000395473.2:p.Ala122=
ENST00000466794.5:n.348C>T
ENST00000486847.2:c.263C>T	ENSP00000470174.1:p.Pro88Leu
ENST00000596512.5:n.304C>T
ENST00000597961.1:c.357C>T	ENSP00000472710.1:p.Ala119=
ENST00000598876.1:c.393C>T	ENSP00000470533.1:p.Ala131=
ENST00000600281.1:n.407C>T
NM_000528.3:c.366C>T	NP_000519.2:p.Ala122=
NM_001173498.1:c.366C>T	NP_001166969.1:p.Ala122=
XM_005259913.1:c.366C>T	XP_005259970.1:p.Ala122=
XM_005259913.2:c.366C>T	XP_005259970.1:p.Ala122=
XM_024451518.1:c.-653C>T	XP_024307286.1:n.-653C>T
NM_000528.4:c.366C>T MANE Select	NP_000519.2:p.Ala122=
NM_001173498.2:c.366C>T	NP_001166969.1:p.Ala122=