Canonical Allele Identifier: CA404256242

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776217G>C (hg19) ; chr19:g.12665403G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665403G>C , CM000681.2:g.12665403G>C	GRCh38
NC_000019.9:g.12776217G>C , CM000681.1:g.12776217G>C	GRCh37
NC_000019.8:g.12637217G>C	NCBI36
NG_008318.1:g.6375C>G
NG_015814.1:g.3600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.385C>G MANE Select	ENSP00000395473.2:p.His129Asp
ENST00000221363.8:c.385C>G	ENSP00000221363.4:p.His129Asp
ENST00000456935.6:c.385C>G	ENSP00000395473.2:p.His129Asp
ENST00000466794.5:n.367C>G
ENST00000486847.2:c.282C>G	ENSP00000470174.1:p.Gly94=
ENST00000596512.5:n.323C>G
ENST00000597961.1:c.376C>G	ENSP00000472710.1:p.His126Asp
ENST00000598876.1:c.412C>G	ENSP00000470533.1:p.His138Asp
ENST00000600281.1:n.426C>G
NM_000528.3:c.385C>G	NP_000519.2:p.His129Asp
NM_001173498.1:c.385C>G	NP_001166969.1:p.His129Asp
XM_005259913.1:c.385C>G	XP_005259970.1:p.His129Asp
XM_005259913.2:c.385C>G	XP_005259970.1:p.His129Asp
XM_024451518.1:c.-634C>G	XP_024307286.1:n.-634C>G
NM_000528.4:c.385C>G MANE Select	NP_000519.2:p.His129Asp
NM_001173498.2:c.385C>G	NP_001166969.1:p.His129Asp