Canonical Allele Identifier: CA2582722704

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665772-CGTTCAGCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665777_12665785del , CM000681.2:g.12665777_12665785del	GRCh38
NC_000019.9:g.12776591_12776599del , CM000681.1:g.12776591_12776599del	GRCh37
NC_000019.8:g.12637591_12637599del	NCBI36
NG_008318.1:g.5997_6005del
NG_015814.1:g.3974_3982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.184_192del MANE Select	ENSP00000395473.2:p.Met62_Asn64del
ENST00000221363.8:c.184_192del	ENSP00000221363.4:p.Met62_Asn64del
ENST00000456935.6:c.184_192del	ENSP00000395473.2:p.Met62_Asn64del
ENST00000466794.5:n.166_174del
ENST00000486847.2:c.160-256_160-248del	ENSP00000470174.1:n.160-256_160-248del
ENST00000596512.5:n.201-256_201-248del
ENST00000597961.1:c.175_183del	ENSP00000472710.1:p.Met59_Asn61del
ENST00000598876.1:c.211_219del	ENSP00000470533.1:p.Met71_Asn73del
ENST00000600281.1:n.225_233del
NM_000528.3:c.184_192del	NP_000519.2:p.Met62_Asn64del
NM_001173498.1:c.184_192del	NP_001166969.1:p.Met62_Asn64del
XM_005259913.1:c.184_192del	XP_005259970.1:p.Met62_Asn64del
XM_005259913.2:c.184_192del	XP_005259970.1:p.Met62_Asn64del
XM_024451518.1:c.-835_-827del	XP_024307286.1:n.-835_-827del
NM_000528.4:c.184_192del MANE Select	NP_000519.2:p.Met62_Asn64del
NM_001173498.2:c.184_192del	NP_001166969.1:p.Met62_Asn64del