Canonical Allele Identifier: CA404248371

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658328-C-G
• MyVariant Identifiers: chr19:g.12769142C>G (hg19) ; chr19:g.12658328C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658328C>G , CM000681.2:g.12658328C>G	GRCh38
NC_000019.9:g.12769142C>G , CM000681.1:g.12769142C>G	GRCh37
NC_000019.8:g.12630142C>G	NCBI36
NG_008318.1:g.13450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1126G>C MANE Select	ENSP00000395473.2:p.Asp376His
ENST00000221363.8:c.1123G>C	ENSP00000221363.4:p.Asp375His
ENST00000456935.6:c.1126G>C	ENSP00000395473.2:p.Asp376His
ENST00000465830.1:n.290G>C
ENST00000466794.5:n.1025G>C
ENST00000495617.1:n.280+403G>C
NM_000528.3:c.1126G>C	NP_000519.2:p.Asp376His
NM_001173498.1:c.1123G>C	NP_001166969.1:p.Asp375His
XM_005259913.1:c.1129G>C	XP_005259970.1:p.Asp377His
XM_011528017.1:c.25G>C	XP_011526319.1:p.Asp9His
XM_005259913.2:c.1129G>C	XP_005259970.1:p.Asp377His
XM_024451518.1:c.25G>C	XP_024307286.1:p.Asp9His
NM_000528.4:c.1126G>C MANE Select	NP_000519.2:p.Asp376His
NM_001173498.2:c.1123G>C	NP_001166969.1:p.Asp375His