Canonical Allele Identifier: CA9225912

Gene: MAN2B1

Linked Data

• dbSNP Id: rs748446780
• ExAC: 19:12758219 CCT / C
• gnomAD v2: 19-12758219-CCT-C
• gnomAD v4: 19-12647405-CCT-C
• MyVariant Identifiers: chr19:g.12758220_12758221del (hg19) ; chr19:g.12647406_12647407del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647411_12647412del , CM000681.2:g.12647411_12647412del	GRCh38
NC_000019.9:g.12758225_12758226del , CM000681.1:g.12758225_12758226del	GRCh37
NC_000019.8:g.12619225_12619226del	NCBI36
NG_008318.1:g.24371_24372del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2820+36_2820+37del MANE Select	ENSP00000395473.2:n.2820+36_2820+37del
ENST00000221363.8:c.2817+36_2817+37del	ENSP00000221363.4:n.2817+36_2817+37del
ENST00000456935.6:c.2820+36_2820+37del	ENSP00000395473.2:n.2820+36_2820+37del
ENST00000466794.5:n.3410+36_3410+37del
ENST00000469423.1:n.178_179del
ENST00000493218.5:n.231+36_231+37del
ENST00000597692.1:c.379+36_379+37del
NM_000528.3:c.2820+36_2820+37del	NP_000519.2:n.2820+36_2820+37del
NM_001173498.1:c.2817+36_2817+37del	NP_001166969.1:n.2817+36_2817+37del
XM_005259913.1:c.2823+36_2823+37del	XP_005259970.1:n.2823+36_2823+37del
XM_011528017.1:c.1719+36_1719+37del	XP_011526319.1:n.1719+36_1719+37del
XM_005259913.2:c.2823+36_2823+37del	XP_005259970.1:n.2823+36_2823+37del
XM_024451518.1:c.1719+36_1719+37del	XP_024307286.1:n.1719+36_1719+37del
NM_000528.4:c.2820+36_2820+37del MANE Select	NP_000519.2:n.2820+36_2820+37del
NM_001173498.2:c.2817+36_2817+37del	NP_001166969.1:n.2817+36_2817+37del