Canonical Allele Identifier: CA993664984

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2842584
• ClinVar RCV Id: RCV003602285
• dbSNP Id: rs2023776596
• gnomAD v3: 19-12649233-G-C
• gnomAD v4: 19-12649233-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649233G>C , CM000681.2:g.12649233G>C	GRCh38
NC_000019.9:g.12760047G>C , CM000681.1:g.12760047G>C	GRCh37
NC_000019.8:g.12621047G>C	NCBI36
NG_008318.1:g.22545C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2356-17C>G MANE Select	ENSP00000395473.2:n.2356-17C>G
ENST00000221363.8:c.2353-17C>G	ENSP00000221363.4:n.2353-17C>G
ENST00000456935.6:c.2356-17C>G	ENSP00000395473.2:n.2356-17C>G
ENST00000466794.5:n.2946-17C>G
NM_000528.3:c.2356-17C>G	NP_000519.2:n.2356-17C>G
NM_001173498.1:c.2353-17C>G	NP_001166969.1:n.2353-17C>G
XM_005259913.1:c.2359-17C>G	XP_005259970.1:n.2359-17C>G
XM_011528017.1:c.1255-17C>G	XP_011526319.1:n.1255-17C>G
XM_005259913.2:c.2359-17C>G	XP_005259970.1:n.2359-17C>G
XM_024451518.1:c.1255-17C>G	XP_024307286.1:n.1255-17C>G
NM_000528.4:c.2356-17C>G MANE Select	NP_000519.2:n.2356-17C>G
NM_001173498.2:c.2353-17C>G	NP_001166969.1:n.2353-17C>G