Canonical Allele Identifier: CA404246424

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657026-T-C
• MyVariant Identifiers: chr19:g.12767840T>C (hg19) ; chr19:g.12657026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657026T>C , CM000681.2:g.12657026T>C	GRCh38
NC_000019.9:g.12767840T>C , CM000681.1:g.12767840T>C	GRCh37
NC_000019.8:g.12628840T>C	NCBI36
NG_008318.1:g.14752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1450A>G MANE Select	ENSP00000395473.2:p.Arg484Gly
ENST00000221363.8:c.1447A>G	ENSP00000221363.4:p.Arg483Gly
ENST00000433513.5:n.56A>G
ENST00000456935.6:c.1450A>G	ENSP00000395473.2:p.Arg484Gly
ENST00000466794.5:n.1349A>G
ENST00000495617.1:n.626A>G
ENST00000593686.1:c.60A>G
ENST00000595880.5:n.47A>G
NM_000528.3:c.1450A>G	NP_000519.2:p.Arg484Gly
NM_001173498.1:c.1447A>G	NP_001166969.1:p.Arg483Gly
XM_005259913.1:c.1453A>G	XP_005259970.1:p.Arg485Gly
XM_011528017.1:c.349A>G	XP_011526319.1:p.Arg117Gly
XM_005259913.2:c.1453A>G	XP_005259970.1:p.Arg485Gly
XM_024451518.1:c.349A>G	XP_024307286.1:p.Arg117Gly
NM_000528.4:c.1450A>G MANE Select	NP_000519.2:p.Arg484Gly
NM_001173498.2:c.1447A>G	NP_001166969.1:p.Arg483Gly