Canonical Allele Identifier: CA404244770

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12766552T>G (hg19) ; chr19:g.12655738T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1786A>C MANE Select	ENSP00000395473.2:p.Ile596Leu
ENST00000221363.8:c.1783A>C	ENSP00000221363.4:p.Ile595Leu
ENST00000433513.5:n.392A>C
ENST00000456935.6:c.1786A>C	ENSP00000395473.2:p.Ile596Leu
ENST00000466794.5:n.2376A>C
ENST00000593686.1:c.379A>C
ENST00000595880.5:n.383A>C
ENST00000596591.1:c.150A>C
NM_000528.3:c.1786A>C	NP_000519.2:p.Ile596Leu
NM_001173498.1:c.1783A>C	NP_001166969.1:p.Ile595Leu
XM_005259913.1:c.1789A>C	XP_005259970.1:p.Ile597Leu
XM_011528017.1:c.685A>C	XP_011526319.1:p.Ile229Leu
XM_005259913.2:c.1789A>C	XP_005259970.1:p.Ile597Leu
XM_024451518.1:c.685A>C	XP_024307286.1:p.Ile229Leu
NM_000528.4:c.1786A>C MANE Select	NP_000519.2:p.Ile596Leu
NM_001173498.2:c.1783A>C	NP_001166969.1:p.Ile595Leu