Canonical Allele Identifier: CA404257142

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776292C>G (hg19) ; chr19:g.12665478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665478C>G , CM000681.2:g.12665478C>G	GRCh38
NC_000019.9:g.12776292C>G , CM000681.1:g.12776292C>G	GRCh37
NC_000019.8:g.12637292C>G	NCBI36
NG_008318.1:g.6300G>C
NG_015814.1:g.3675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.310G>C MANE Select	ENSP00000395473.2:p.Val104Leu
ENST00000221363.8:c.310G>C	ENSP00000221363.4:p.Val104Leu
ENST00000456935.6:c.310G>C	ENSP00000395473.2:p.Val104Leu
ENST00000466794.5:n.292G>C
ENST00000486847.2:c.207G>C	ENSP00000470174.1:p.Arg69=
ENST00000596512.5:n.248G>C
ENST00000597961.1:c.301G>C	ENSP00000472710.1:p.Val101Leu
ENST00000598876.1:c.337G>C	ENSP00000470533.1:p.Val113Leu
ENST00000600281.1:n.351G>C
NM_000528.3:c.310G>C	NP_000519.2:p.Val104Leu
NM_001173498.1:c.310G>C	NP_001166969.1:p.Val104Leu
XM_005259913.1:c.310G>C	XP_005259970.1:p.Val104Leu
XM_005259913.2:c.310G>C	XP_005259970.1:p.Val104Leu
XM_024451518.1:c.-709G>C	XP_024307286.1:n.-709G>C
NM_000528.4:c.310G>C MANE Select	NP_000519.2:p.Val104Leu
NM_001173498.2:c.310G>C	NP_001166969.1:p.Val104Leu