Canonical Allele Identifier: CA404256275

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776219C>A (hg19) ; chr19:g.12665405C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665405C>A , CM000681.2:g.12665405C>A	GRCh38
NC_000019.9:g.12776219C>A , CM000681.1:g.12776219C>A	GRCh37
NC_000019.8:g.12637219C>A	NCBI36
NG_008318.1:g.6373G>T
NG_015814.1:g.3602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.383G>T MANE Select	ENSP00000395473.2:p.Trp128Leu
ENST00000221363.8:c.383G>T	ENSP00000221363.4:p.Trp128Leu
ENST00000456935.6:c.383G>T	ENSP00000395473.2:p.Trp128Leu
ENST00000466794.5:n.365G>T
ENST00000486847.2:c.280G>T	ENSP00000470174.1:p.Gly94Cys
ENST00000596512.5:n.321G>T
ENST00000597961.1:c.374G>T	ENSP00000472710.1:p.Trp125Leu
ENST00000598876.1:c.410G>T	ENSP00000470533.1:p.Trp137Leu
ENST00000600281.1:n.424G>T
NM_000528.3:c.383G>T	NP_000519.2:p.Trp128Leu
NM_001173498.1:c.383G>T	NP_001166969.1:p.Trp128Leu
XM_005259913.1:c.383G>T	XP_005259970.1:p.Trp128Leu
XM_005259913.2:c.383G>T	XP_005259970.1:p.Trp128Leu
XM_024451518.1:c.-636G>T	XP_024307286.1:n.-636G>T
NM_000528.4:c.383G>T MANE Select	NP_000519.2:p.Trp128Leu
NM_001173498.2:c.383G>T	NP_001166969.1:p.Trp128Leu