Canonical Allele Identifier: CA631836848

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1233815309
• gnomAD v2: 19-12771926-AGCT-A
• gnomAD v3: 19-12661112-AGCT-A
• gnomAD v4: 19-12661112-AGCT-A
• COSMIC: COSN2526043 ; COSN2526067
• MyVariant Identifiers: chr19:g.12771927_12771929del (hg19) ; chr19:g.12661113_12661115del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661116_12661118del , CM000681.2:g.12661116_12661118del	GRCh38
NC_000019.9:g.12771930_12771932del , CM000681.1:g.12771930_12771932del	GRCh37
NC_000019.8:g.12632930_12632932del	NCBI36
NG_008318.1:g.10663_10665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1026+145_1026+147del MANE Select	ENSP00000395473.2:n.1026+145_1026+147del
ENST00000221363.8:c.1026+145_1026+147del	ENSP00000221363.4:n.1026+145_1026+147del
ENST00000456935.6:c.1026+145_1026+147del	ENSP00000395473.2:n.1026+145_1026+147del
ENST00000462144.1:n.364_366del
ENST00000466794.5:n.1008+145_1008+147del
NM_000528.3:c.1026+145_1026+147del	NP_000519.2:n.1026+145_1026+147del
NM_001173498.1:c.1026+145_1026+147del	NP_001166969.1:n.1026+145_1026+147del
XM_005259913.1:c.1026+145_1026+147del	XP_005259970.1:n.1026+145_1026+147del
XM_011528017.1:c.8+145_8+147del	XP_011526319.1:n.8+145_8+147del
XM_005259913.2:c.1026+145_1026+147del	XP_005259970.1:n.1026+145_1026+147del
XM_024451518.1:c.8+145_8+147del	XP_024307286.1:n.8+145_8+147del
NM_000528.4:c.1026+145_1026+147del MANE Select	NP_000519.2:n.1026+145_1026+147del
NM_001173498.2:c.1026+145_1026+147del	NP_001166969.1:n.1026+145_1026+147del