Canonical Allele Identifier: CA404246463

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12767851A>C (hg19) ; chr19:g.12657037A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657037A>C , CM000681.2:g.12657037A>C	GRCh38
NC_000019.9:g.12767851A>C , CM000681.1:g.12767851A>C	GRCh37
NC_000019.8:g.12628851A>C	NCBI36
NG_008318.1:g.14741T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1439T>G MANE Select	ENSP00000395473.2:p.Leu480Arg
ENST00000221363.8:c.1436T>G	ENSP00000221363.4:p.Leu479Arg
ENST00000433513.5:n.45T>G
ENST00000456935.6:c.1439T>G	ENSP00000395473.2:p.Leu480Arg
ENST00000466794.5:n.1338T>G
ENST00000495617.1:n.615T>G
ENST00000593686.1:c.49T>G
ENST00000595880.5:n.36T>G
NM_000528.3:c.1439T>G	NP_000519.2:p.Leu480Arg
NM_001173498.1:c.1436T>G	NP_001166969.1:p.Leu479Arg
XM_005259913.1:c.1442T>G	XP_005259970.1:p.Leu481Arg
XM_011528017.1:c.338T>G	XP_011526319.1:p.Leu113Arg
XM_005259913.2:c.1442T>G	XP_005259970.1:p.Leu481Arg
XM_024451518.1:c.338T>G	XP_024307286.1:p.Leu113Arg
NM_000528.4:c.1439T>G MANE Select	NP_000519.2:p.Leu480Arg
NM_001173498.2:c.1436T>G	NP_001166969.1:p.Leu479Arg