Canonical Allele Identifier: CA2756174179
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125399_49125400insACAAACACA , CM000665.2:g.49125399_49125400insACAAACACA GRCh38
NC_000003.11:g.49162832_49162833insACAAACACA , CM000665.1:g.49162832_49162833insACAAACACA GRCh37
NC_000003.10:g.49137836_49137837insACAAACACA NCBI36
NG_008094.1:g.12767_12768insTGTGTTTGT
NG_054716.1:g.539_540insTGTGTTTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2573_2574insTGTGTTTGT MANE Select ENSP00000307156.4:p.Gly858_Leu859insValPheVal
ENST00000305544.8:c.2573_2574insTGTGTTTGT ENSP00000307156.4:p.Gly858_Leu859insValPheVal
ENST00000418109.5:c.2573_2574insTGTGTTTGT ENSP00000388325.1:p.Gly858_Leu859insValPheVal
ENST00000464891.5:n.322_323insTGTGTTTGT
ENST00000477701.1:n.446_447insTGTGTTTGT
ENST00000483057.1:n.173_174insTGTGTTTGT
ENST00000486298.5:n.426-231_426-230insTGTGTTTGT
NM_002292.3:c.2573_2574insTGTGTTTGT NP_002283.3:p.Gly858_Leu859insValPheVal
XM_005265127.3:c.2573_2574insTGTGTTTGT XP_005265184.1:p.Gly858_Leu859insValPheVal
XM_005265127.4:c.2573_2574insTGTGTTTGT XP_005265184.1:p.Gly858_Leu859insValPheVal
NM_002292.4:c.2573_2574insTGTGTTTGT MANE Select NP_002283.3:p.Gly858_Leu859insValPheVal