Canonical Allele Identifier: CA305460075

Gene: MAN2B1

Linked Data

• dbSNP Id: rs990275905
• gnomAD v3: 19-12647394-CCT-C
• gnomAD v4: 19-12647394-CCT-C
• MyVariant Identifiers: chr19:g.12758209_12758210del (hg19) ; chr19:g.12647395_12647396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647401_12647402del , CM000681.2:g.12647401_12647402del	GRCh38
NC_000019.9:g.12758215_12758216del , CM000681.1:g.12758215_12758216del	GRCh37
NC_000019.8:g.12619215_12619216del	NCBI36
NG_008318.1:g.24382_24383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2820+47_2820+48del MANE Select	ENSP00000395473.2:n.2820+47_2820+48del
ENST00000221363.8:c.2817+47_2817+48del	ENSP00000221363.4:n.2817+47_2817+48del
ENST00000456935.6:c.2820+47_2820+48del	ENSP00000395473.2:n.2820+47_2820+48del
ENST00000466794.5:n.3410+47_3410+48del
ENST00000469423.1:n.189_190del
ENST00000493218.5:n.231+47_231+48del
ENST00000597692.1:c.379+47_379+48del
NM_000528.3:c.2820+47_2820+48del	NP_000519.2:n.2820+47_2820+48del
NM_001173498.1:c.2817+47_2817+48del	NP_001166969.1:n.2817+47_2817+48del
XM_005259913.1:c.2823+47_2823+48del	XP_005259970.1:n.2823+47_2823+48del
XM_011528017.1:c.1719+47_1719+48del	XP_011526319.1:n.1719+47_1719+48del
XM_005259913.2:c.2823+47_2823+48del	XP_005259970.1:n.2823+47_2823+48del
XM_024451518.1:c.1719+47_1719+48del	XP_024307286.1:n.1719+47_1719+48del
NM_000528.4:c.2820+47_2820+48del MANE Select	NP_000519.2:n.2820+47_2820+48del
NM_001173498.2:c.2817+47_2817+48del	NP_001166969.1:n.2817+47_2817+48del