Canonical Allele Identifier: CA404248154

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769107G>C (hg19) ; chr19:g.12658293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658293G>C , CM000681.2:g.12658293G>C	GRCh38
NC_000019.9:g.12769107G>C , CM000681.1:g.12769107G>C	GRCh37
NC_000019.8:g.12630107G>C	NCBI36
NG_008318.1:g.13485C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1161C>G MANE Select	ENSP00000395473.2:p.Phe387Leu
ENST00000221363.8:c.1158C>G	ENSP00000221363.4:p.Phe386Leu
ENST00000456935.6:c.1161C>G	ENSP00000395473.2:p.Phe387Leu
ENST00000465830.1:n.325C>G
ENST00000466794.5:n.1060C>G
ENST00000495617.1:n.280+438C>G
NM_000528.3:c.1161C>G	NP_000519.2:p.Phe387Leu
NM_001173498.1:c.1158C>G	NP_001166969.1:p.Phe386Leu
XM_005259913.1:c.1164C>G	XP_005259970.1:p.Phe388Leu
XM_011528017.1:c.60C>G	XP_011526319.1:p.Phe20Leu
XM_005259913.2:c.1164C>G	XP_005259970.1:p.Phe388Leu
XM_024451518.1:c.60C>G	XP_024307286.1:p.Phe20Leu
NM_000528.4:c.1161C>G MANE Select	NP_000519.2:p.Phe387Leu
NM_001173498.2:c.1158C>G	NP_001166969.1:p.Phe386Leu