Canonical Allele Identifier: CA505770816

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647575-C-T
• MyVariant Identifiers: chr19:g.12758389C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647575C>T , CM000681.2:g.12647575C>T	GRCh38
NC_000019.9:g.12758389C>T , CM000681.1:g.12758389C>T	GRCh37
NC_000019.8:g.12619389C>T	NCBI36
NG_008318.1:g.24203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2688G>A MANE Select	ENSP00000395473.2:p.Leu896=
ENST00000221363.8:c.2685G>A	ENSP00000221363.4:p.Leu895=
ENST00000456935.6:c.2688G>A	ENSP00000395473.2:p.Leu896=
ENST00000466794.5:n.3278G>A
ENST00000469423.1:n.10G>A
ENST00000493218.5:n.99G>A
ENST00000597692.1:c.247G>A
NM_000528.3:c.2688G>A	NP_000519.2:p.Leu896=
NM_001173498.1:c.2685G>A	NP_001166969.1:p.Leu895=
XM_005259913.1:c.2691G>A	XP_005259970.1:p.Leu897=
XM_011528017.1:c.1587G>A	XP_011526319.1:p.Leu529=
XM_005259913.2:c.2691G>A	XP_005259970.1:p.Leu897=
XM_024451518.1:c.1587G>A	XP_024307286.1:p.Leu529=
NM_000528.4:c.2688G>A MANE Select	NP_000519.2:p.Leu896=
NM_001173498.2:c.2685G>A	NP_001166969.1:p.Leu895=