Canonical Allele Identifier: CA9226769

Gene: MAN2B1

Linked Data

• dbSNP Id: rs778300782
• ExAC: 19:12775617 G / C
• gnomAD v2: 19-12775617-G-C
• MyVariant Identifiers: chr19:g.12775617G>C (hg19) ; chr19:g.12664803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664803G>C , CM000681.2:g.12664803G>C	GRCh38
NC_000019.9:g.12775617G>C , CM000681.1:g.12775617G>C	GRCh37
NC_000019.8:g.12636617G>C	NCBI36
NG_008318.1:g.6975C>G
NG_015814.1:g.3000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.619C>G MANE Select	ENSP00000395473.2:p.Leu207Val
ENST00000221363.8:c.619C>G	ENSP00000221363.4:p.Leu207Val
ENST00000456935.6:c.619C>G	ENSP00000395473.2:p.Leu207Val
ENST00000466794.5:n.601C>G
ENST00000486847.2:c.333+549C>G	ENSP00000470174.1:n.333+549C>G
NM_000528.3:c.619C>G	NP_000519.2:p.Leu207Val
NM_001173498.1:c.619C>G	NP_001166969.1:p.Leu207Val
XM_005259913.1:c.619C>G	XP_005259970.1:p.Leu207Val
XM_005259913.2:c.619C>G	XP_005259970.1:p.Leu207Val
XM_024451518.1:c.-400C>G	XP_024307286.1:n.-400C>G
NM_000528.4:c.619C>G MANE Select	NP_000519.2:p.Leu207Val
NM_001173498.2:c.619C>G	NP_001166969.1:p.Leu207Val