Canonical Allele Identifier: CA404256268

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776218C>G (hg19) ; chr19:g.12665404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665404C>G , CM000681.2:g.12665404C>G	GRCh38
NC_000019.9:g.12776218C>G , CM000681.1:g.12776218C>G	GRCh37
NC_000019.8:g.12637218C>G	NCBI36
NG_008318.1:g.6374G>C
NG_015814.1:g.3601C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.384G>C MANE Select	ENSP00000395473.2:p.Trp128Cys
ENST00000221363.8:c.384G>C	ENSP00000221363.4:p.Trp128Cys
ENST00000456935.6:c.384G>C	ENSP00000395473.2:p.Trp128Cys
ENST00000466794.5:n.366G>C
ENST00000486847.2:c.281G>C	ENSP00000470174.1:p.Gly94Ala
ENST00000596512.5:n.322G>C
ENST00000597961.1:c.375G>C	ENSP00000472710.1:p.Trp125Cys
ENST00000598876.1:c.411G>C	ENSP00000470533.1:p.Trp137Cys
ENST00000600281.1:n.425G>C
NM_000528.3:c.384G>C	NP_000519.2:p.Trp128Cys
NM_001173498.1:c.384G>C	NP_001166969.1:p.Trp128Cys
XM_005259913.1:c.384G>C	XP_005259970.1:p.Trp128Cys
XM_005259913.2:c.384G>C	XP_005259970.1:p.Trp128Cys
XM_024451518.1:c.-635G>C	XP_024307286.1:n.-635G>C
NM_000528.4:c.384G>C MANE Select	NP_000519.2:p.Trp128Cys
NM_001173498.2:c.384G>C	NP_001166969.1:p.Trp128Cys