Canonical Allele Identifier: CA2582722680
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665646C>G , CM000681.2:g.12665646C>G GRCh38
NC_000019.9:g.12776460C>G , CM000681.1:g.12776460C>G GRCh37
NC_000019.8:g.12637460C>G NCBI36
NG_008318.1:g.6132G>C
NG_015814.1:g.3843C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.262+57G>C MANE Select ENSP00000395473.2:n.262+57G>C
ENST00000221363.8:c.262+57G>C ENSP00000221363.4:n.262+57G>C
ENST00000456935.6:c.262+57G>C ENSP00000395473.2:n.262+57G>C
ENST00000466794.5:n.244+57G>C
ENST00000486847.2:c.160-121G>C ENSP00000470174.1:n.160-121G>C
ENST00000596512.5:n.201-121G>C
ENST00000597961.1:c.253+57G>C ENSP00000472710.1:n.253+57G>C
ENST00000598876.1:c.289+57G>C ENSP00000470533.1:n.289+57G>C
ENST00000600281.1:n.303+57G>C
NM_000528.3:c.262+57G>C NP_000519.2:n.262+57G>C
NM_001173498.1:c.262+57G>C NP_001166969.1:n.262+57G>C
XM_005259913.1:c.262+57G>C XP_005259970.1:n.262+57G>C
XM_005259913.2:c.262+57G>C XP_005259970.1:n.262+57G>C
XM_024451518.1:c.-757+57G>C XP_024307286.1:n.-757+57G>C
NM_000528.4:c.262+57G>C MANE Select NP_000519.2:n.262+57G>C
NM_001173498.2:c.262+57G>C NP_001166969.1:n.262+57G>C