Canonical Allele Identifier: CA631838189

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2418884
• ClinVar RCV Id: RCV003112128
• dbSNP Id: rs1250330037
• gnomAD v2: 19-12776504-A-G
• gnomAD v4: 19-12665690-A-G
• MyVariant Identifiers: chr19:g.12776504A>G (hg19) ; chr19:g.12665690A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665690A>G , CM000681.2:g.12665690A>G	GRCh38
NC_000019.9:g.12776504A>G , CM000681.1:g.12776504A>G	GRCh37
NC_000019.8:g.12637504A>G	NCBI36
NG_008318.1:g.6088T>C
NG_015814.1:g.3887A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.262+13T>C MANE Select	ENSP00000395473.2:n.262+13T>C
ENST00000221363.8:c.262+13T>C	ENSP00000221363.4:n.262+13T>C
ENST00000456935.6:c.262+13T>C	ENSP00000395473.2:n.262+13T>C
ENST00000466794.5:n.244+13T>C
ENST00000486847.2:c.160-165T>C	ENSP00000470174.1:n.160-165T>C
ENST00000596512.5:n.201-165T>C
ENST00000597961.1:c.253+13T>C	ENSP00000472710.1:n.253+13T>C
ENST00000598876.1:c.289+13T>C	ENSP00000470533.1:n.289+13T>C
ENST00000600281.1:n.303+13T>C
NM_000528.3:c.262+13T>C	NP_000519.2:n.262+13T>C
NM_001173498.1:c.262+13T>C	NP_001166969.1:n.262+13T>C
XM_005259913.1:c.262+13T>C	XP_005259970.1:n.262+13T>C
XM_005259913.2:c.262+13T>C	XP_005259970.1:n.262+13T>C
XM_024451518.1:c.-757+13T>C	XP_024307286.1:n.-757+13T>C
NM_000528.4:c.262+13T>C MANE Select	NP_000519.2:n.262+13T>C
NM_001173498.2:c.262+13T>C	NP_001166969.1:n.262+13T>C