Canonical Allele Identifier: CA404248400

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024023965
• MyVariant Identifiers: chr19:g.12769150T>C (hg19) ; chr19:g.12658336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658336T>C , CM000681.2:g.12658336T>C	GRCh38
NC_000019.9:g.12769150T>C , CM000681.1:g.12769150T>C	GRCh37
NC_000019.8:g.12630150T>C	NCBI36
NG_008318.1:g.13442A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1118A>G MANE Select	ENSP00000395473.2:p.Lys373Arg
ENST00000221363.8:c.1115A>G	ENSP00000221363.4:p.Lys372Arg
ENST00000456935.6:c.1118A>G	ENSP00000395473.2:p.Lys373Arg
ENST00000465830.1:n.282A>G
ENST00000466794.5:n.1017A>G
ENST00000495617.1:n.280+395A>G
NM_000528.3:c.1118A>G	NP_000519.2:p.Lys373Arg
NM_001173498.1:c.1115A>G	NP_001166969.1:p.Lys372Arg
XM_005259913.1:c.1121A>G	XP_005259970.1:p.Lys374Arg
XM_011528017.1:c.17A>G	XP_011526319.1:p.Lys6Arg
XM_005259913.2:c.1121A>G	XP_005259970.1:p.Lys374Arg
XM_024451518.1:c.17A>G	XP_024307286.1:p.Lys6Arg
NM_000528.4:c.1118A>G MANE Select	NP_000519.2:p.Lys373Arg
NM_001173498.2:c.1115A>G	NP_001166969.1:p.Lys372Arg