Canonical Allele Identifier: CA2665698296

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125511-A-ACCCCCTCCCCTGGCTCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125511_49125512insCCCCCTCCCCTGGCTCTG , CM000665.2:g.49125511_49125512insCCCCCTCCCCTGGCTCTG	GRCh38
NC_000003.11:g.49162944_49162945insCCCCCTCCCCTGGCTCTG , CM000665.1:g.49162944_49162945insCCCCCTCCCCTGGCTCTG	GRCh37
NC_000003.10:g.49137948_49137949insCCCCCTCCCCTGGCTCTG	NCBI36
NG_008094.1:g.12655_12656insCAGAGCCAGGGGAGGGGG
NG_054716.1:g.427_428insCAGAGCCAGGGGAGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2489-28_2489-27insCAGAGCCAGGGGAGGGGG MANE Select	ENSP00000307156.4:n.2489-28_2489-27insCAGAGCCAGGGGAGGGGG
ENST00000305544.8:c.2489-28_2489-27insCAGAGCCAGGGGAGGGGG	ENSP00000307156.4:n.2489-28_2489-27insCAGAGCCAGGGGAGGGGG
ENST00000418109.5:c.2489-28_2489-27insCAGAGCCAGGGGAGGGGG	ENSP00000388325.1:n.2489-28_2489-27insCAGAGCCAGGGGAGGGGG
ENST00000464891.5:n.210_211insCAGAGCCAGGGGAGGGGG
ENST00000477701.1:n.362-28_362-27insCAGAGCCAGGGGAGGGGG
ENST00000483057.1:n.61_62insCAGAGCCAGGGGAGGGGG
ENST00000486298.5:n.426-343_426-342insCAGAGCCAGGGGAGGGGG
NM_002292.3:c.2489-28_2489-27insCAGAGCCAGGGGAGGGGG	NP_002283.3:n.2489-28_2489-27insCAGAGCCAGGGGAGGGGG
XM_005265127.3:c.2489-28_2489-27insCAGAGCCAGGGGAGGGGG	XP_005265184.1:n.2489-28_2489-27insCAGAGCCAGGGGAGGGGG
XM_005265127.4:c.2489-28_2489-27insCAGAGCCAGGGGAGGGGG	XP_005265184.1:n.2489-28_2489-27insCAGAGCCAGGGGAGGGGG
NM_002292.4:c.2489-28_2489-27insCAGAGCCAGGGGAGGGGG MANE Select	NP_002283.3:n.2489-28_2489-27insCAGAGCCAGGGGAGGGGG