Canonical Allele Identifier: CA9226677

Gene: MAN2B1

Linked Data

• dbSNP Id: rs753038091
• ExAC: 19:12774123 A / G
• gnomAD v2: 19-12774123-A-G
• gnomAD v4: 19-12663309-A-G
• MyVariant Identifiers: chr19:g.12774123A>G (hg19) ; chr19:g.12663309A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663309A>G , CM000681.2:g.12663309A>G	GRCh38
NC_000019.9:g.12774123A>G , CM000681.1:g.12774123A>G	GRCh37
NC_000019.8:g.12635123A>G	NCBI36
NG_008318.1:g.8469T>C
NG_015814.1:g.1506A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.909+8T>C MANE Select	ENSP00000395473.2:n.909+8T>C
ENST00000221363.8:c.909+8T>C	ENSP00000221363.4:n.909+8T>C
ENST00000456935.6:c.909+8T>C	ENSP00000395473.2:n.909+8T>C
ENST00000462144.1:n.102+8T>C
ENST00000466794.5:n.891+8T>C
NM_000528.3:c.909+8T>C	NP_000519.2:n.909+8T>C
NM_001173498.1:c.909+8T>C	NP_001166969.1:n.909+8T>C
XM_005259913.1:c.909+8T>C	XP_005259970.1:n.909+8T>C
XM_011528017.1:c.-110+8T>C	XP_011526319.1:n.-110+8T>C
XM_005259913.2:c.909+8T>C	XP_005259970.1:n.909+8T>C
XM_024451518.1:c.-110+8T>C	XP_024307286.1:n.-110+8T>C
NM_000528.4:c.909+8T>C MANE Select	NP_000519.2:n.909+8T>C
NM_001173498.2:c.909+8T>C	NP_001166969.1:n.909+8T>C