Canonical Allele Identifier: CA305470367

Gene: MAN2B1

Linked Data

• dbSNP Id: rs746438346
• COSMIC: COSM2816139
• MyVariant Identifiers: chr19:g.12767825G>A (hg19) ; chr19:g.12657011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657011G>A , CM000681.2:g.12657011G>A	GRCh38
NC_000019.9:g.12767825G>A , CM000681.1:g.12767825G>A	GRCh37
NC_000019.8:g.12628825G>A	NCBI36
NG_008318.1:g.14767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1465C>T MANE Select	ENSP00000395473.2:p.His489Tyr
ENST00000221363.8:c.1462C>T	ENSP00000221363.4:p.His488Tyr
ENST00000433513.5:n.71C>T
ENST00000456935.6:c.1465C>T	ENSP00000395473.2:p.His489Tyr
ENST00000466794.5:n.1364C>T
ENST00000495617.1:n.641C>T
ENST00000593686.1:c.75C>T
ENST00000595880.5:n.62C>T
NM_000528.3:c.1465C>T	NP_000519.2:p.His489Tyr
NM_001173498.1:c.1462C>T	NP_001166969.1:p.His488Tyr
XM_005259913.1:c.1468C>T	XP_005259970.1:p.His490Tyr
XM_011528017.1:c.364C>T	XP_011526319.1:p.His122Tyr
XM_005259913.2:c.1468C>T	XP_005259970.1:p.His490Tyr
XM_024451518.1:c.364C>T	XP_024307286.1:p.His122Tyr
NM_000528.4:c.1465C>T MANE Select	NP_000519.2:p.His489Tyr
NM_001173498.2:c.1462C>T	NP_001166969.1:p.His488Tyr