Canonical Allele Identifier: CA9226798

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2200305
• ClinVar RCV Id: RCV002638148
• dbSNP Id: rs200048536
• ExAC: 19:12775800 C / T
• gnomAD v2: 19-12775800-C-T
• gnomAD v4: 19-12664986-C-T
• MyVariant Identifiers: chr19:g.12775800C>T (hg19) ; chr19:g.12664986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664986C>T , CM000681.2:g.12664986C>T	GRCh38
NC_000019.9:g.12775800C>T , CM000681.1:g.12775800C>T	GRCh37
NC_000019.8:g.12636800C>T	NCBI36
NG_008318.1:g.6792G>A
NG_015814.1:g.3183C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.437-1G>A MANE Select	ENSP00000395473.2:n.437-1G>A
ENST00000221363.8:c.437-1G>A	ENSP00000221363.4:n.437-1G>A
ENST00000456935.6:c.437-1G>A	ENSP00000395473.2:n.437-1G>A
ENST00000466794.5:n.419-1G>A
ENST00000486847.2:c.333+366G>A	ENSP00000470174.1:n.333+366G>A
ENST00000596512.5:n.375-1G>A
ENST00000597961.1:c.428-1G>A	ENSP00000472710.1:n.428-1G>A
ENST00000598876.1:c.464-1G>A	ENSP00000470533.1:n.464-1G>A
NM_000528.3:c.437-1G>A	NP_000519.2:n.437-1G>A
NM_001173498.1:c.437-1G>A	NP_001166969.1:n.437-1G>A
XM_005259913.1:c.437-1G>A	XP_005259970.1:n.437-1G>A
XM_005259913.2:c.437-1G>A	XP_005259970.1:n.437-1G>A
XM_024451518.1:c.-582-1G>A	XP_024307286.1:n.-582-1G>A
NM_000528.4:c.437-1G>A MANE Select	NP_000519.2:n.437-1G>A
NM_001173498.2:c.437-1G>A	NP_001166969.1:n.437-1G>A