Canonical Allele Identifier: CA505626113

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12775672T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664858T>C , CM000681.2:g.12664858T>C	GRCh38
NC_000019.9:g.12775672T>C , CM000681.1:g.12775672T>C	GRCh37
NC_000019.8:g.12636672T>C	NCBI36
NG_008318.1:g.6920A>G
NG_015814.1:g.3055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.564A>G MANE Select	ENSP00000395473.2:p.Arg188=
ENST00000221363.8:c.564A>G	ENSP00000221363.4:p.Arg188=
ENST00000456935.6:c.564A>G	ENSP00000395473.2:p.Arg188=
ENST00000466794.5:n.546A>G
ENST00000486847.2:c.333+494A>G	ENSP00000470174.1:n.333+494A>G
ENST00000596512.5:n.502A>G
ENST00000597961.1:c.555A>G	ENSP00000472710.1:p.Arg185=
NM_000528.3:c.564A>G	NP_000519.2:p.Arg188=
NM_001173498.1:c.564A>G	NP_001166969.1:p.Arg188=
XM_005259913.1:c.564A>G	XP_005259970.1:p.Arg188=
XM_005259913.2:c.564A>G	XP_005259970.1:p.Arg188=
XM_024451518.1:c.-455A>G	XP_024307286.1:n.-455A>G
NM_000528.4:c.564A>G MANE Select	NP_000519.2:p.Arg188=
NM_001173498.2:c.564A>G	NP_001166969.1:p.Arg188=