Canonical Allele Identifier: CA9226776

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1089757
• ClinVar RCV Id: RCV001408675
• dbSNP Id: rs753665587
• ExAC: 19:12775645 G / A
• gnomAD v2: 19-12775645-G-A
• gnomAD v3: 19-12664831-G-A
• gnomAD v4: 19-12664831-G-A
• MyVariant Identifiers: chr19:g.12775645G>A (hg19) ; chr19:g.12664831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664831G>A , CM000681.2:g.12664831G>A	GRCh38
NC_000019.9:g.12775645G>A , CM000681.1:g.12775645G>A	GRCh37
NC_000019.8:g.12636645G>A	NCBI36
NG_008318.1:g.6947C>T
NG_015814.1:g.3028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.591C>T MANE Select	ENSP00000395473.2:p.Pro197=
ENST00000221363.8:c.591C>T	ENSP00000221363.4:p.Pro197=
ENST00000456935.6:c.591C>T	ENSP00000395473.2:p.Pro197=
ENST00000466794.5:n.573C>T
ENST00000486847.2:c.333+521C>T	ENSP00000470174.1:n.333+521C>T
ENST00000596512.5:n.529C>T
ENST00000597961.1:c.582C>T	ENSP00000472710.1:p.Pro194=
NM_000528.3:c.591C>T	NP_000519.2:p.Pro197=
NM_001173498.1:c.591C>T	NP_001166969.1:p.Pro197=
XM_005259913.1:c.591C>T	XP_005259970.1:p.Pro197=
XM_005259913.2:c.591C>T	XP_005259970.1:p.Pro197=
XM_024451518.1:c.-428C>T	XP_024307286.1:n.-428C>T
NM_000528.4:c.591C>T MANE Select	NP_000519.2:p.Pro197=
NM_001173498.2:c.591C>T	NP_001166969.1:p.Pro197=