Canonical Allele Identifier: CA404248114

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658286-C-G
• MyVariant Identifiers: chr19:g.12769100C>G (hg19) ; chr19:g.12658286C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658286C>G , CM000681.2:g.12658286C>G	GRCh38
NC_000019.9:g.12769100C>G , CM000681.1:g.12769100C>G	GRCh37
NC_000019.8:g.12630100C>G	NCBI36
NG_008318.1:g.13492G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1168G>C MANE Select	ENSP00000395473.2:p.Gly390Arg
ENST00000221363.8:c.1165G>C	ENSP00000221363.4:p.Gly389Arg
ENST00000456935.6:c.1168G>C	ENSP00000395473.2:p.Gly390Arg
ENST00000465830.1:n.332G>C
ENST00000466794.5:n.1067G>C
ENST00000495617.1:n.280+445G>C
NM_000528.3:c.1168G>C	NP_000519.2:p.Gly390Arg
NM_001173498.1:c.1165G>C	NP_001166969.1:p.Gly389Arg
XM_005259913.1:c.1171G>C	XP_005259970.1:p.Gly391Arg
XM_011528017.1:c.67G>C	XP_011526319.1:p.Gly23Arg
XM_005259913.2:c.1171G>C	XP_005259970.1:p.Gly391Arg
XM_024451518.1:c.67G>C	XP_024307286.1:p.Gly23Arg
NM_000528.4:c.1168G>C MANE Select	NP_000519.2:p.Gly390Arg
NM_001173498.2:c.1165G>C	NP_001166969.1:p.Gly389Arg