Canonical Allele Identifier: CA2582717353

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647393-CCCTCTCTCTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647402_12647412del , CM000681.2:g.12647402_12647412del	GRCh38
NC_000019.9:g.12758216_12758226del , CM000681.1:g.12758216_12758226del	GRCh37
NC_000019.8:g.12619216_12619226del	NCBI36
NG_008318.1:g.24374_24384del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2820+39_2820+49del MANE Select	ENSP00000395473.2:n.2820+39_2820+49del
ENST00000221363.8:c.2817+39_2817+49del	ENSP00000221363.4:n.2817+39_2817+49del
ENST00000456935.6:c.2820+39_2820+49del	ENSP00000395473.2:n.2820+39_2820+49del
ENST00000466794.5:n.3410+39_3410+49del
ENST00000469423.1:n.181_191del
ENST00000493218.5:n.231+39_231+49del
ENST00000597692.1:c.379+39_379+49del
NM_000528.3:c.2820+39_2820+49del	NP_000519.2:n.2820+39_2820+49del
NM_001173498.1:c.2817+39_2817+49del	NP_001166969.1:n.2817+39_2817+49del
XM_005259913.1:c.2823+39_2823+49del	XP_005259970.1:n.2823+39_2823+49del
XM_011528017.1:c.1719+39_1719+49del	XP_011526319.1:n.1719+39_1719+49del
XM_005259913.2:c.2823+39_2823+49del	XP_005259970.1:n.2823+39_2823+49del
XM_024451518.1:c.1719+39_1719+49del	XP_024307286.1:n.1719+39_1719+49del
NM_000528.4:c.2820+39_2820+49del MANE Select	NP_000519.2:n.2820+39_2820+49del
NM_001173498.2:c.2817+39_2817+49del	NP_001166969.1:n.2817+39_2817+49del