Canonical Allele Identifier: CA404246136

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1491091
• ClinVar RCV Id: RCV001986278
• dbSNP Id: rs2023977189
• gnomAD v3: 19-12656962-T-C
• gnomAD v4: 19-12656962-T-C
• COSMIC: COSM5013377
• MyVariant Identifiers: chr19:g.12767776T>C (hg19) ; chr19:g.12656962T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656962T>C , CM000681.2:g.12656962T>C	GRCh38
NC_000019.9:g.12767776T>C , CM000681.1:g.12767776T>C	GRCh37
NC_000019.8:g.12628776T>C	NCBI36
NG_008318.1:g.14816A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1514A>G MANE Select	ENSP00000395473.2:p.Gln505Arg
ENST00000221363.8:c.1511A>G	ENSP00000221363.4:p.Gln504Arg
ENST00000433513.5:n.120A>G
ENST00000456935.6:c.1514A>G	ENSP00000395473.2:p.Gln505Arg
ENST00000466794.5:n.1413A>G
ENST00000495617.1:n.690A>G
ENST00000593686.1:c.124A>G
ENST00000595880.5:n.111A>G
NM_000528.3:c.1514A>G	NP_000519.2:p.Gln505Arg
NM_001173498.1:c.1511A>G	NP_001166969.1:p.Gln504Arg
XM_005259913.1:c.1517A>G	XP_005259970.1:p.Gln506Arg
XM_011528017.1:c.413A>G	XP_011526319.1:p.Gln138Arg
XM_005259913.2:c.1517A>G	XP_005259970.1:p.Gln506Arg
XM_024451518.1:c.413A>G	XP_024307286.1:p.Gln138Arg
NM_000528.4:c.1514A>G MANE Select	NP_000519.2:p.Gln505Arg
NM_001173498.2:c.1511A>G	NP_001166969.1:p.Gln504Arg