Canonical Allele Identifier: CA404237344

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 990080
• ClinVar RCV Id: RCV001278022
• dbSNP Id: rs2023711115
• MyVariant Identifiers: chr19:g.12758091T>C (hg19) ; chr19:g.12647277T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647277T>C , CM000681.2:g.12647277T>C	GRCh38
NC_000019.9:g.12758091T>C , CM000681.1:g.12758091T>C	GRCh37
NC_000019.8:g.12619091T>C	NCBI36
NG_008318.1:g.24501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2879A>G MANE Select	ENSP00000395473.2:p.Gln960Arg
ENST00000221363.8:c.2876A>G	ENSP00000221363.4:p.Gln959Arg
ENST00000456935.6:c.2879A>G	ENSP00000395473.2:p.Gln960Arg
ENST00000466794.5:n.3469A>G
ENST00000469423.1:n.308A>G
ENST00000493218.5:n.290A>G
ENST00000597692.1:c.438A>G
NM_000528.3:c.2879A>G	NP_000519.2:p.Gln960Arg
NM_001173498.1:c.2876A>G	NP_001166969.1:p.Gln959Arg
XM_005259913.1:c.2882A>G	XP_005259970.1:p.Gln961Arg
XM_011528017.1:c.1778A>G	XP_011526319.1:p.Gln593Arg
XM_005259913.2:c.2882A>G	XP_005259970.1:p.Gln961Arg
XM_024451518.1:c.1778A>G	XP_024307286.1:p.Gln593Arg
NM_000528.4:c.2879A>G MANE Select	NP_000519.2:p.Gln960Arg
NM_001173498.2:c.2876A>G	NP_001166969.1:p.Gln959Arg