Canonical Allele Identifier: CA305471184

Gene: MAN2B1

Linked Data

• dbSNP Id: rs141960779
• gnomAD v4: 19-12657981-AGAAG-A
• COSMIC: COSN20123138
• MyVariant Identifiers: chr19:g.12768796_12768799del (hg19) ; chr19:g.12657982_12657985del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657982_12657985del , CM000681.2:g.12657982_12657985del	GRCh38
NC_000019.9:g.12768796_12768799del , CM000681.1:g.12768796_12768799del	GRCh37
NC_000019.8:g.12629796_12629799del	NCBI36
NG_008318.1:g.13793_13796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+78_1309+81del MANE Select	ENSP00000395473.2:n.1309+78_1309+81del
ENST00000221363.8:c.1306+78_1306+81del	ENSP00000221363.4:n.1306+78_1306+81del
ENST00000456935.6:c.1309+78_1309+81del	ENSP00000395473.2:n.1309+78_1309+81del
ENST00000465830.1:n.473+78_473+81del
ENST00000466794.5:n.1208+78_1208+81del
ENST00000495617.1:n.281-225_281-222del
NM_000528.3:c.1309+78_1309+81del	NP_000519.2:n.1309+78_1309+81del
NM_001173498.1:c.1306+78_1306+81del	NP_001166969.1:n.1306+78_1306+81del
XM_005259913.1:c.1312+78_1312+81del	XP_005259970.1:n.1312+78_1312+81del
XM_011528017.1:c.208+78_208+81del	XP_011526319.1:n.208+78_208+81del
XM_005259913.2:c.1312+78_1312+81del	XP_005259970.1:n.1312+78_1312+81del
XM_024451518.1:c.208+78_208+81del	XP_024307286.1:n.208+78_208+81del
NM_000528.4:c.1309+78_1309+81del MANE Select	NP_000519.2:n.1309+78_1309+81del
NM_001173498.2:c.1306+78_1306+81del	NP_001166969.1:n.1306+78_1306+81del