Canonical Allele Identifier: CA404247712

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1028817
• ClinVar RCV Id: RCV001329966
• dbSNP Id: rs2024019978
• MyVariant Identifiers: chr19:g.12769040G>A (hg19) ; chr19:g.12658226G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658226G>A , CM000681.2:g.12658226G>A	GRCh38
NC_000019.9:g.12769040G>A , CM000681.1:g.12769040G>A	GRCh37
NC_000019.8:g.12630040G>A	NCBI36
NG_008318.1:g.13552C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1228C>T MANE Select	ENSP00000395473.2:p.Gln410Ter
ENST00000221363.8:c.1225C>T	ENSP00000221363.4:p.Gln409Ter
ENST00000456935.6:c.1228C>T	ENSP00000395473.2:p.Gln410Ter
ENST00000465830.1:n.392C>T
ENST00000466794.5:n.1127C>T
ENST00000495617.1:n.281-466C>T
NM_000528.3:c.1228C>T	NP_000519.2:p.Gln410Ter
NM_001173498.1:c.1225C>T	NP_001166969.1:p.Gln409Ter
XM_005259913.1:c.1231C>T	XP_005259970.1:p.Gln411Ter
XM_011528017.1:c.127C>T	XP_011526319.1:p.Gln43Ter
XM_005259913.2:c.1231C>T	XP_005259970.1:p.Gln411Ter
XM_024451518.1:c.127C>T	XP_024307286.1:p.Gln43Ter
NM_000528.4:c.1228C>T MANE Select	NP_000519.2:p.Gln410Ter
NM_001173498.2:c.1225C>T	NP_001166969.1:p.Gln409Ter