Canonical Allele Identifier: CA9226315

Gene: MAN2B1

Linked Data

• dbSNP Id: rs751073488
• ExAC: 19:12766488 G / T
• gnomAD v2: 19-12766488-G-T
• MyVariant Identifiers: chr19:g.12766488G>T (hg19) ; chr19:g.12655674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655674G>T , CM000681.2:g.12655674G>T	GRCh38
NC_000019.9:g.12766488G>T , CM000681.1:g.12766488G>T	GRCh37
NC_000019.8:g.12627488G>T	NCBI36
NG_008318.1:g.16104C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1830+20C>A MANE Select	ENSP00000395473.2:n.1830+20C>A
ENST00000221363.8:c.1827+20C>A	ENSP00000221363.4:n.1827+20C>A
ENST00000433513.5:n.436+20C>A
ENST00000456935.6:c.1830+20C>A	ENSP00000395473.2:n.1830+20C>A
ENST00000466794.5:n.2420+20C>A
ENST00000593686.1:c.423+20C>A
ENST00000595880.5:n.427+20C>A
ENST00000596591.1:c.194+20C>A
NM_000528.3:c.1830+20C>A	NP_000519.2:n.1830+20C>A
NM_001173498.1:c.1827+20C>A	NP_001166969.1:n.1827+20C>A
XM_005259913.1:c.1833+20C>A	XP_005259970.1:n.1833+20C>A
XM_011528017.1:c.729+20C>A	XP_011526319.1:n.729+20C>A
XM_005259913.2:c.1833+20C>A	XP_005259970.1:n.1833+20C>A
XM_024451518.1:c.729+20C>A	XP_024307286.1:n.729+20C>A
NM_000528.4:c.1830+20C>A MANE Select	NP_000519.2:n.1830+20C>A
NM_001173498.2:c.1827+20C>A	NP_001166969.1:n.1827+20C>A