Canonical Allele Identifier: CA404244786

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12766560G>C (hg19) ; chr19:g.12655746G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655746G>C , CM000681.2:g.12655746G>C	GRCh38
NC_000019.9:g.12766560G>C , CM000681.1:g.12766560G>C	GRCh37
NC_000019.8:g.12627560G>C	NCBI36
NG_008318.1:g.16032C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1778C>G MANE Select	ENSP00000395473.2:p.Pro593Arg
ENST00000221363.8:c.1775C>G	ENSP00000221363.4:p.Pro592Arg
ENST00000433513.5:n.384C>G
ENST00000456935.6:c.1778C>G	ENSP00000395473.2:p.Pro593Arg
ENST00000466794.5:n.2368C>G
ENST00000593686.1:c.371C>G
ENST00000595880.5:n.375C>G
ENST00000596591.1:c.142C>G
NM_000528.3:c.1778C>G	NP_000519.2:p.Pro593Arg
NM_001173498.1:c.1775C>G	NP_001166969.1:p.Pro592Arg
XM_005259913.1:c.1781C>G	XP_005259970.1:p.Pro594Arg
XM_011528017.1:c.677C>G	XP_011526319.1:p.Pro226Arg
XM_005259913.2:c.1781C>G	XP_005259970.1:p.Pro594Arg
XM_024451518.1:c.677C>G	XP_024307286.1:p.Pro226Arg
NM_000528.4:c.1778C>G MANE Select	NP_000519.2:p.Pro593Arg
NM_001173498.2:c.1775C>G	NP_001166969.1:p.Pro592Arg