Canonical Allele Identifier: CA783349242

Gene: MAN2B1

Linked Data

• dbSNP Id: rs35296973
• gnomAD v3: 19-12657954-CAAAAAAAAAAA-C
• gnomAD v4: 19-12657954-CAAAAAAAAAAA-C
• MyVariant Identifiers: chr19:g.12768769_12768779del (hg19) ; chr19:g.12657955_12657965del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657971_12657981del , CM000681.2:g.12657971_12657981del	GRCh38
NC_000019.9:g.12768785_12768795del , CM000681.1:g.12768785_12768795del	GRCh37
NC_000019.8:g.12629785_12629795del	NCBI36
NG_008318.1:g.13813_13823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+98_1309+108del MANE Select	ENSP00000395473.2:n.1309+98_1309+108del
ENST00000221363.8:c.1306+98_1306+108del	ENSP00000221363.4:n.1306+98_1306+108del
ENST00000456935.6:c.1309+98_1309+108del	ENSP00000395473.2:n.1309+98_1309+108del
ENST00000465830.1:n.473+98_473+108del
ENST00000466794.5:n.1208+98_1208+108del
ENST00000495617.1:n.281-205_281-195del
NM_000528.3:c.1309+98_1309+108del	NP_000519.2:n.1309+98_1309+108del
NM_001173498.1:c.1306+98_1306+108del	NP_001166969.1:n.1306+98_1306+108del
XM_005259913.1:c.1312+98_1312+108del	XP_005259970.1:n.1312+98_1312+108del
XM_011528017.1:c.208+98_208+108del	XP_011526319.1:n.208+98_208+108del
XM_005259913.2:c.1312+98_1312+108del	XP_005259970.1:n.1312+98_1312+108del
XM_024451518.1:c.208+98_208+108del	XP_024307286.1:n.208+98_208+108del
NM_000528.4:c.1309+98_1309+108del MANE Select	NP_000519.2:n.1309+98_1309+108del
NM_001173498.2:c.1306+98_1306+108del	NP_001166969.1:n.1306+98_1306+108del