Canonical Allele Identifier: CA404256575

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776246A>G (hg19) ; chr19:g.12665432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665432A>G , CM000681.2:g.12665432A>G	GRCh38
NC_000019.9:g.12776246A>G , CM000681.1:g.12776246A>G	GRCh37
NC_000019.8:g.12637246A>G	NCBI36
NG_008318.1:g.6346T>C
NG_015814.1:g.3629A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.356T>C MANE Select	ENSP00000395473.2:p.Val119Ala
ENST00000221363.8:c.356T>C	ENSP00000221363.4:p.Val119Ala
ENST00000456935.6:c.356T>C	ENSP00000395473.2:p.Val119Ala
ENST00000466794.5:n.338T>C
ENST00000486847.2:c.253T>C	ENSP00000470174.1:p.Trp85Arg
ENST00000596512.5:n.294T>C
ENST00000597961.1:c.347T>C	ENSP00000472710.1:p.Val116Ala
ENST00000598876.1:c.383T>C	ENSP00000470533.1:p.Val128Ala
ENST00000600281.1:n.397T>C
NM_000528.3:c.356T>C	NP_000519.2:p.Val119Ala
NM_001173498.1:c.356T>C	NP_001166969.1:p.Val119Ala
XM_005259913.1:c.356T>C	XP_005259970.1:p.Val119Ala
XM_005259913.2:c.356T>C	XP_005259970.1:p.Val119Ala
XM_024451518.1:c.-663T>C	XP_024307286.1:n.-663T>C
NM_000528.4:c.356T>C MANE Select	NP_000519.2:p.Val119Ala
NM_001173498.2:c.356T>C	NP_001166969.1:p.Val119Ala