Canonical Allele Identifier: CA404252174

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024154839
• MyVariant Identifiers: chr19:g.12774214G>A (hg19) ; chr19:g.12663400G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663400G>A , CM000681.2:g.12663400G>A	GRCh38
NC_000019.9:g.12774214G>A , CM000681.1:g.12774214G>A	GRCh37
NC_000019.8:g.12635214G>A	NCBI36
NG_008318.1:g.8378C>T
NG_015814.1:g.1597G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.826C>T MANE Select	ENSP00000395473.2:p.Gln276Ter
ENST00000221363.8:c.826C>T	ENSP00000221363.4:p.Gln276Ter
ENST00000456935.6:c.826C>T	ENSP00000395473.2:p.Gln276Ter
ENST00000462144.1:n.19C>T
ENST00000466794.5:n.808C>T
NM_000528.3:c.826C>T	NP_000519.2:p.Gln276Ter
NM_001173498.1:c.826C>T	NP_001166969.1:p.Gln276Ter
XM_005259913.1:c.826C>T	XP_005259970.1:p.Gln276Ter
XM_005259913.2:c.826C>T	XP_005259970.1:p.Gln276Ter
XM_024451518.1:c.-193C>T	XP_024307286.1:n.-193C>T
NM_000528.4:c.826C>T MANE Select	NP_000519.2:p.Gln276Ter
NM_001173498.2:c.826C>T	NP_001166969.1:p.Gln276Ter