Canonical Allele Identifier: CA404258891

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2777084
• ClinVar RCV Id: RCV003600491
• MyVariant Identifiers: chr19:g.12776625C>T (hg19) ; chr19:g.12665811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665811C>T , CM000681.2:g.12665811C>T	GRCh38
NC_000019.9:g.12776625C>T , CM000681.1:g.12776625C>T	GRCh37
NC_000019.8:g.12637625C>T	NCBI36
NG_008318.1:g.5967G>A
NG_015814.1:g.4008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.160-6G>A MANE Select	ENSP00000395473.2:n.160-6G>A
ENST00000221363.8:c.160-6G>A	ENSP00000221363.4:n.160-6G>A
ENST00000456935.6:c.160-6G>A	ENSP00000395473.2:n.160-6G>A
ENST00000466794.5:n.142-6G>A
ENST00000486847.2:c.160-286G>A	ENSP00000470174.1:n.160-286G>A
ENST00000596512.5:n.201-286G>A
ENST00000597961.1:c.151-6G>A	ENSP00000472710.1:n.151-6G>A
ENST00000598876.1:c.181G>A	ENSP00000470533.1:p.Val61Met
ENST00000600281.1:n.201-6G>A
NM_000528.3:c.160-6G>A	NP_000519.2:n.160-6G>A
NM_001173498.1:c.160-6G>A	NP_001166969.1:n.160-6G>A
XM_005259913.1:c.160-6G>A	XP_005259970.1:n.160-6G>A
XM_005259913.2:c.160-6G>A	XP_005259970.1:n.160-6G>A
XM_024451518.1:c.-859-6G>A	XP_024307286.1:n.-859-6G>A
NM_000528.4:c.160-6G>A MANE Select	NP_000519.2:n.160-6G>A
NM_001173498.2:c.160-6G>A	NP_001166969.1:n.160-6G>A