Canonical Allele Identifier: CA9226544

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 432466
• ClinVar RCV Id: RCV000498197 ; RCV001273204
• dbSNP Id: rs563097824
• ExAC: 19:12769038 C / G
• gnomAD v2: 19-12769038-C-G
• gnomAD v3: 19-12658224-C-G
• gnomAD v4: 19-12658224-C-G
• MyVariant Identifiers: chr19:g.12769038C>G (hg19) ; chr19:g.12658224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658224C>G , CM000681.2:g.12658224C>G	GRCh38
NC_000019.9:g.12769038C>G , CM000681.1:g.12769038C>G	GRCh37
NC_000019.8:g.12630038C>G	NCBI36
NG_008318.1:g.13554G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1230G>C MANE Select	ENSP00000395473.2:p.Gln410His
ENST00000221363.8:c.1227G>C	ENSP00000221363.4:p.Gln409His
ENST00000456935.6:c.1230G>C	ENSP00000395473.2:p.Gln410His
ENST00000465830.1:n.394G>C
ENST00000466794.5:n.1129G>C
ENST00000495617.1:n.281-464G>C
NM_000528.3:c.1230G>C	NP_000519.2:p.Gln410His
NM_001173498.1:c.1227G>C	NP_001166969.1:p.Gln409His
XM_005259913.1:c.1233G>C	XP_005259970.1:p.Gln411His
XM_011528017.1:c.129G>C	XP_011526319.1:p.Gln43His
XM_005259913.2:c.1233G>C	XP_005259970.1:p.Gln411His
XM_024451518.1:c.129G>C	XP_024307286.1:p.Gln43His
NM_000528.4:c.1230G>C MANE Select	NP_000519.2:p.Gln410His
NM_001173498.2:c.1227G>C	NP_001166969.1:p.Gln409His