Canonical Allele Identifier: CA404256207

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776212C>A (hg19) ; chr19:g.12665398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665398C>A , CM000681.2:g.12665398C>A	GRCh38
NC_000019.9:g.12776212C>A , CM000681.1:g.12776212C>A	GRCh37
NC_000019.8:g.12637212C>A	NCBI36
NG_008318.1:g.6380G>T
NG_015814.1:g.3595C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.390G>T MANE Select	ENSP00000395473.2:p.Gln130His
ENST00000221363.8:c.390G>T	ENSP00000221363.4:p.Gln130His
ENST00000456935.6:c.390G>T	ENSP00000395473.2:p.Gln130His
ENST00000466794.5:n.372G>T
ENST00000486847.2:c.287G>T	ENSP00000470174.1:p.Ser96Ile
ENST00000596512.5:n.328G>T
ENST00000597961.1:c.381G>T	ENSP00000472710.1:p.Gln127His
ENST00000598876.1:c.417G>T	ENSP00000470533.1:p.Gln139His
ENST00000600281.1:n.431G>T
NM_000528.3:c.390G>T	NP_000519.2:p.Gln130His
NM_001173498.1:c.390G>T	NP_001166969.1:p.Gln130His
XM_005259913.1:c.390G>T	XP_005259970.1:p.Gln130His
XM_005259913.2:c.390G>T	XP_005259970.1:p.Gln130His
XM_024451518.1:c.-629G>T	XP_024307286.1:n.-629G>T
NM_000528.4:c.390G>T MANE Select	NP_000519.2:p.Gln130His
NM_001173498.2:c.390G>T	NP_001166969.1:p.Gln130His