Canonical Allele Identifier: CA9226719

Gene: MAN2B1

Linked Data

• dbSNP Id: rs758488793
• ExAC: 19:12774502 C / T
• gnomAD v2: 19-12774502-C-T
• gnomAD v4: 19-12663688-C-T
• MyVariant Identifiers: chr19:g.12774502C>T (hg19) ; chr19:g.12663688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663688C>T , CM000681.2:g.12663688C>T	GRCh38
NC_000019.9:g.12774502C>T , CM000681.1:g.12774502C>T	GRCh37
NC_000019.8:g.12635502C>T	NCBI36
NG_008318.1:g.8090G>A
NG_015814.1:g.1885C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.763+15G>A MANE Select	ENSP00000395473.2:n.763+15G>A
ENST00000221363.8:c.763+15G>A	ENSP00000221363.4:n.763+15G>A
ENST00000456935.6:c.763+15G>A	ENSP00000395473.2:n.763+15G>A
ENST00000466794.5:n.745+15G>A
ENST00000486847.2:c.466+15G>A	ENSP00000470174.1:n.466+15G>A
NM_000528.3:c.763+15G>A	NP_000519.2:n.763+15G>A
NM_001173498.1:c.763+15G>A	NP_001166969.1:n.763+15G>A
XM_005259913.1:c.763+15G>A	XP_005259970.1:n.763+15G>A
XM_005259913.2:c.763+15G>A	XP_005259970.1:n.763+15G>A
XM_024451518.1:c.-256+15G>A	XP_024307286.1:n.-256+15G>A
NM_000528.4:c.763+15G>A MANE Select	NP_000519.2:n.763+15G>A
NM_001173498.2:c.763+15G>A	NP_001166969.1:n.763+15G>A