Canonical Allele Identifier: CA9226588

Gene: MAN2B1

Linked Data

• dbSNP Id: rs764100402
• ExAC: 19:12769202 G / C
• gnomAD v2: 19-12769202-G-C
• gnomAD v4: 19-12658388-G-C
• MyVariant Identifiers: chr19:g.12769202G>C (hg19) ; chr19:g.12658388G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658388G>C , CM000681.2:g.12658388G>C	GRCh38
NC_000019.9:g.12769202G>C , CM000681.1:g.12769202G>C	GRCh37
NC_000019.8:g.12630202G>C	NCBI36
NG_008318.1:g.13390C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1109+40C>G MANE Select	ENSP00000395473.2:n.1109+40C>G
ENST00000221363.8:c.1106+40C>G	ENSP00000221363.4:n.1106+40C>G
ENST00000456935.6:c.1109+40C>G	ENSP00000395473.2:n.1109+40C>G
ENST00000465830.1:n.230C>G
ENST00000466794.5:n.1009-44C>G
ENST00000495617.1:n.280+343C>G
NM_000528.3:c.1109+40C>G	NP_000519.2:n.1109+40C>G
NM_001173498.1:c.1106+40C>G	NP_001166969.1:n.1106+40C>G
XM_005259913.1:c.1112+40C>G	XP_005259970.1:n.1112+40C>G
XM_011528017.1:c.9-44C>G	XP_011526319.1:n.9-44C>G
XM_005259913.2:c.1112+40C>G	XP_005259970.1:n.1112+40C>G
XM_024451518.1:c.9-44C>G	XP_024307286.1:n.9-44C>G
NM_000528.4:c.1109+40C>G MANE Select	NP_000519.2:n.1109+40C>G
NM_001173498.2:c.1106+40C>G	NP_001166969.1:n.1106+40C>G