Canonical Allele Identifier: CA146743

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 93207
• ClinVar RCV Id: RCV000079070 ; RCV000298455 ; RCV000675484
• dbSNP Id: rs1133330
• ExAC: 19:12772090 C / T
• gnomAD v2: 19-12772090-C-T
• gnomAD v3: 19-12661276-C-T
• gnomAD v4: 19-12661276-C-T
• MyVariant Identifiers: chr19:g.12772090C>T (hg19) ; chr19:g.12661276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661276C>T , CM000681.2:g.12661276C>T	GRCh38
NC_000019.9:g.12772090C>T , CM000681.1:g.12772090C>T	GRCh37
NC_000019.8:g.12633090C>T	NCBI36
NG_008318.1:g.10502G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1010G>A MANE Select	ENSP00000395473.2:p.Arg337Gln
ENST00000221363.8:c.1010G>A	ENSP00000221363.4:p.Arg337Gln
ENST00000456935.6:c.1010G>A	ENSP00000395473.2:p.Arg337Gln
ENST00000462144.1:n.203G>A
ENST00000466794.5:n.992G>A
NM_000528.3:c.1010G>A	NP_000519.2:p.Arg337Gln
NM_001173498.1:c.1010G>A	NP_001166969.1:p.Arg337Gln
XM_005259913.1:c.1010G>A	XP_005259970.1:p.Arg337Gln
XM_011528017.1:c.-9G>A	XP_011526319.1:n.-9G>A
XM_005259913.2:c.1010G>A	XP_005259970.1:p.Arg337Gln
XM_024451518.1:c.-9G>A	XP_024307286.1:n.-9G>A
NM_000528.4:c.1010G>A MANE Select	NP_000519.2:p.Arg337Gln
NM_001173498.2:c.1010G>A	NP_001166969.1:p.Arg337Gln