Canonical Allele Identifier: CA404244868

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12766599A>T (hg19) ; chr19:g.12655785A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655785A>T , CM000681.2:g.12655785A>T	GRCh38
NC_000019.9:g.12766599A>T , CM000681.1:g.12766599A>T	GRCh37
NC_000019.8:g.12627599A>T	NCBI36
NG_008318.1:g.15993T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1739T>A MANE Select	ENSP00000395473.2:p.Val580Glu
ENST00000221363.8:c.1736T>A	ENSP00000221363.4:p.Val579Glu
ENST00000433513.5:n.345T>A
ENST00000456935.6:c.1739T>A	ENSP00000395473.2:p.Val580Glu
ENST00000466794.5:n.2329T>A
ENST00000593686.1:c.332T>A
ENST00000595880.5:n.336T>A
ENST00000596591.1:c.103T>A
NM_000528.3:c.1739T>A	NP_000519.2:p.Val580Glu
NM_001173498.1:c.1736T>A	NP_001166969.1:p.Val579Glu
XM_005259913.1:c.1742T>A	XP_005259970.1:p.Val581Glu
XM_011528017.1:c.638T>A	XP_011526319.1:p.Val213Glu
XM_005259913.2:c.1742T>A	XP_005259970.1:p.Val581Glu
XM_024451518.1:c.638T>A	XP_024307286.1:p.Val213Glu
NM_000528.4:c.1739T>A MANE Select	NP_000519.2:p.Val580Glu
NM_001173498.2:c.1736T>A	NP_001166969.1:p.Val579Glu