Canonical Allele Identifier: CA9226055

Gene: MAN2B1

Linked Data

• dbSNP Id: rs773320738
• ExAC: 19:12760065 A / T
• gnomAD v2: 19-12760065-A-T
• MyVariant Identifiers: chr19:g.12760065A>T (hg19) ; chr19:g.12649251A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649251A>T , CM000681.2:g.12649251A>T	GRCh38
NC_000019.9:g.12760065A>T , CM000681.1:g.12760065A>T	GRCh37
NC_000019.8:g.12621065A>T	NCBI36
NG_008318.1:g.22527T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2356-35T>A MANE Select	ENSP00000395473.2:n.2356-35T>A
ENST00000221363.8:c.2353-35T>A	ENSP00000221363.4:n.2353-35T>A
ENST00000456935.6:c.2356-35T>A	ENSP00000395473.2:n.2356-35T>A
ENST00000466794.5:n.2946-35T>A
NM_000528.3:c.2356-35T>A	NP_000519.2:n.2356-35T>A
NM_001173498.1:c.2353-35T>A	NP_001166969.1:n.2353-35T>A
XM_005259913.1:c.2359-35T>A	XP_005259970.1:n.2359-35T>A
XM_011528017.1:c.1255-35T>A	XP_011526319.1:n.1255-35T>A
XM_005259913.2:c.2359-35T>A	XP_005259970.1:n.2359-35T>A
XM_024451518.1:c.1255-35T>A	XP_024307286.1:n.1255-35T>A
NM_000528.4:c.2356-35T>A MANE Select	NP_000519.2:n.2356-35T>A
NM_001173498.2:c.2353-35T>A	NP_001166969.1:n.2353-35T>A