Canonical Allele Identifier: CA2577594204

Gene: LAMB2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122901_49122902insCCCGCTGCAGC , CM000665.2:g.49122901_49122902insCCCGCTGCAGC	GRCh38
NC_000003.11:g.49160334_49160335insCCCGCTGCAGC , CM000665.1:g.49160334_49160335insCCCGCTGCAGC	GRCh37
NC_000003.10:g.49135338_49135339insCCCGCTGCAGC	NCBI36
NG_008094.1:g.15265_15266insGCTGCAGCGGG
NG_054716.1:g.3037_3038insGCTGCAGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4375_4376insGCTGCAGCGGG MANE Select	ENSP00000307156.4:p.Thr1459SerfsTer?
ENST00000305544.8:c.4375_4376insGCTGCAGCGGG	ENSP00000307156.4:p.Thr1459SerfsTer?
ENST00000418109.5:c.4375_4376insGCTGCAGCGGG	ENSP00000388325.1:p.Thr1459SerfsTer?
ENST00000469665.1:n.684_685insGCTGCAGCGGG
NM_002292.3:c.4375_4376insGCTGCAGCGGG	NP_002283.3:p.Thr1459SerfsTer?
XM_005265127.3:c.4375_4376insGCTGCAGCGGG	XP_005265184.1:p.Thr1459SerfsTer?
XM_005265127.4:c.4375_4376insGCTGCAGCGGG	XP_005265184.1:p.Thr1459SerfsTer?
NM_002292.4:c.4375_4376insGCTGCAGCGGG MANE Select	NP_002283.3:p.Thr1459SerfsTer?