Canonical Allele Identifier: CA305469530

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1000868549
• gnomAD v4: 19-12655738-T-C
• MyVariant Identifiers: chr19:g.12766552T>C (hg19) ; chr19:g.12655738T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655738T>C , CM000681.2:g.12655738T>C	GRCh38
NC_000019.9:g.12766552T>C , CM000681.1:g.12766552T>C	GRCh37
NC_000019.8:g.12627552T>C	NCBI36
NG_008318.1:g.16040A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1786A>G MANE Select	ENSP00000395473.2:p.Ile596Val
ENST00000221363.8:c.1783A>G	ENSP00000221363.4:p.Ile595Val
ENST00000433513.5:n.392A>G
ENST00000456935.6:c.1786A>G	ENSP00000395473.2:p.Ile596Val
ENST00000466794.5:n.2376A>G
ENST00000593686.1:c.379A>G
ENST00000595880.5:n.383A>G
ENST00000596591.1:c.150A>G
NM_000528.3:c.1786A>G	NP_000519.2:p.Ile596Val
NM_001173498.1:c.1783A>G	NP_001166969.1:p.Ile595Val
XM_005259913.1:c.1789A>G	XP_005259970.1:p.Ile597Val
XM_011528017.1:c.685A>G	XP_011526319.1:p.Ile229Val
XM_005259913.2:c.1789A>G	XP_005259970.1:p.Ile597Val
XM_024451518.1:c.685A>G	XP_024307286.1:p.Ile229Val
NM_000528.4:c.1786A>G MANE Select	NP_000519.2:p.Ile596Val
NM_001173498.2:c.1783A>G	NP_001166969.1:p.Ile595Val