Canonical Allele Identifier: CA2582717954
Gene: MAN2B1 HGNC NCBI

Linked Data

gnomAD v4: 19-12649247-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12649247G>T , CM000681.2:g.12649247G>T GRCh38
NC_000019.9:g.12760061G>T , CM000681.1:g.12760061G>T GRCh37
NC_000019.8:g.12621061G>T NCBI36
NG_008318.1:g.22531C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.2356-31C>A MANE Select ENSP00000395473.2:n.2356-31C>A
ENST00000221363.8:c.2353-31C>A ENSP00000221363.4:n.2353-31C>A
ENST00000456935.6:c.2356-31C>A ENSP00000395473.2:n.2356-31C>A
ENST00000466794.5:n.2946-31C>A
NM_000528.3:c.2356-31C>A NP_000519.2:n.2356-31C>A
NM_001173498.1:c.2353-31C>A NP_001166969.1:n.2353-31C>A
XM_005259913.1:c.2359-31C>A XP_005259970.1:n.2359-31C>A
XM_011528017.1:c.1255-31C>A XP_011526319.1:n.1255-31C>A
XM_005259913.2:c.2359-31C>A XP_005259970.1:n.2359-31C>A
XM_024451518.1:c.1255-31C>A XP_024307286.1:n.1255-31C>A
NM_000528.4:c.2356-31C>A MANE Select NP_000519.2:n.2356-31C>A
NM_001173498.2:c.2353-31C>A NP_001166969.1:n.2353-31C>A
Search 100 bp 5'
Search 100 bp 3'