Canonical Allele Identifier: CA404256224

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776214G>C (hg19) ; chr19:g.12665400G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665400G>C , CM000681.2:g.12665400G>C	GRCh38
NC_000019.9:g.12776214G>C , CM000681.1:g.12776214G>C	GRCh37
NC_000019.8:g.12637214G>C	NCBI36
NG_008318.1:g.6378C>G
NG_015814.1:g.3597G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.388C>G MANE Select	ENSP00000395473.2:p.Gln130Glu
ENST00000221363.8:c.388C>G	ENSP00000221363.4:p.Gln130Glu
ENST00000456935.6:c.388C>G	ENSP00000395473.2:p.Gln130Glu
ENST00000466794.5:n.370C>G
ENST00000486847.2:c.285C>G	ENSP00000470174.1:p.Thr95=
ENST00000596512.5:n.326C>G
ENST00000597961.1:c.379C>G	ENSP00000472710.1:p.Gln127Glu
ENST00000598876.1:c.415C>G	ENSP00000470533.1:p.Gln139Glu
ENST00000600281.1:n.429C>G
NM_000528.3:c.388C>G	NP_000519.2:p.Gln130Glu
NM_001173498.1:c.388C>G	NP_001166969.1:p.Gln130Glu
XM_005259913.1:c.388C>G	XP_005259970.1:p.Gln130Glu
XM_005259913.2:c.388C>G	XP_005259970.1:p.Gln130Glu
XM_024451518.1:c.-631C>G	XP_024307286.1:n.-631C>G
NM_000528.4:c.388C>G MANE Select	NP_000519.2:p.Gln130Glu
NM_001173498.2:c.388C>G	NP_001166969.1:p.Gln130Glu