Canonical Allele Identifier: CA404237883

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2676423
• ClinVar RCV Id: RCV003470037
• MyVariant Identifiers: chr19:g.12758319G>A (hg19) ; chr19:g.12647505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647505G>A , CM000681.2:g.12647505G>A	GRCh38
NC_000019.9:g.12758319G>A , CM000681.1:g.12758319G>A	GRCh37
NC_000019.8:g.12619319G>A	NCBI36
NG_008318.1:g.24273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2758C>T MANE Select	ENSP00000395473.2:p.Gln920Ter
ENST00000221363.8:c.2755C>T	ENSP00000221363.4:p.Gln919Ter
ENST00000456935.6:c.2758C>T	ENSP00000395473.2:p.Gln920Ter
ENST00000466794.5:n.3348C>T
ENST00000469423.1:n.80C>T
ENST00000493218.5:n.169C>T
ENST00000597692.1:c.317C>T
NM_000528.3:c.2758C>T	NP_000519.2:p.Gln920Ter
NM_001173498.1:c.2755C>T	NP_001166969.1:p.Gln919Ter
XM_005259913.1:c.2761C>T	XP_005259970.1:p.Gln921Ter
XM_011528017.1:c.1657C>T	XP_011526319.1:p.Gln553Ter
XM_005259913.2:c.2761C>T	XP_005259970.1:p.Gln921Ter
XM_024451518.1:c.1657C>T	XP_024307286.1:p.Gln553Ter
NM_000528.4:c.2758C>T MANE Select	NP_000519.2:p.Gln920Ter
NM_001173498.2:c.2755C>T	NP_001166969.1:p.Gln919Ter