Canonical Allele Identifier: CA631832581
Gene: MAN2B1 HGNC NCBI

Linked Data

dbSNP Id: rs1165195200

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12649019G>C , CM000681.2:g.12649019G>C GRCh38
NC_000019.9:g.12759833G>C , CM000681.1:g.12759833G>C GRCh37
NC_000019.8:g.12620833G>C NCBI36
NG_008318.1:g.22759C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2436+117C>G MANE Select ENSP00000395473.2:n.2436+117C>G
ENST00000221363.8:c.2433+117C>G ENSP00000221363.4:n.2433+117C>G
ENST00000456935.6:c.2436+117C>G ENSP00000395473.2:n.2436+117C>G
ENST00000466794.5:n.3026+117C>G
NM_000528.3:c.2436+117C>G NP_000519.2:n.2436+117C>G
NM_001173498.1:c.2433+117C>G NP_001166969.1:n.2433+117C>G
XM_005259913.1:c.2439+117C>G XP_005259970.1:n.2439+117C>G
XM_011528017.1:c.1335+117C>G XP_011526319.1:n.1335+117C>G
XM_005259913.2:c.2439+117C>G XP_005259970.1:n.2439+117C>G
XM_024451518.1:c.1335+117C>G XP_024307286.1:n.1335+117C>G
NM_000528.4:c.2436+117C>G MANE Select NP_000519.2:n.2436+117C>G
NM_001173498.2:c.2433+117C>G NP_001166969.1:n.2433+117C>G