Canonical Allele Identifier: CA404248407

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769151T>G (hg19) ; chr19:g.12658337T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658337T>G , CM000681.2:g.12658337T>G	GRCh38
NC_000019.9:g.12769151T>G , CM000681.1:g.12769151T>G	GRCh37
NC_000019.8:g.12630151T>G	NCBI36
NG_008318.1:g.13441A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1117A>C MANE Select	ENSP00000395473.2:p.Lys373Gln
ENST00000221363.8:c.1114A>C	ENSP00000221363.4:p.Lys372Gln
ENST00000456935.6:c.1117A>C	ENSP00000395473.2:p.Lys373Gln
ENST00000465830.1:n.281A>C
ENST00000466794.5:n.1016A>C
ENST00000495617.1:n.280+394A>C
NM_000528.3:c.1117A>C	NP_000519.2:p.Lys373Gln
NM_001173498.1:c.1114A>C	NP_001166969.1:p.Lys372Gln
XM_005259913.1:c.1120A>C	XP_005259970.1:p.Lys374Gln
XM_011528017.1:c.16A>C	XP_011526319.1:p.Lys6Gln
XM_005259913.2:c.1120A>C	XP_005259970.1:p.Lys374Gln
XM_024451518.1:c.16A>C	XP_024307286.1:p.Lys6Gln
NM_000528.4:c.1117A>C MANE Select	NP_000519.2:p.Lys373Gln
NM_001173498.2:c.1114A>C	NP_001166969.1:p.Lys372Gln