Canonical Allele Identifier: CA2665699127

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49130652-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130655_49130656del , CM000665.2:g.49130655_49130656del	GRCh38
NC_000003.11:g.49168088_49168089del , CM000665.1:g.49168088_49168089del	GRCh37
NC_000003.10:g.49143092_49143093del	NCBI36
NG_008094.1:g.7513_7514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.1036+86_1036+87del MANE Select	ENSP00000307156.4:n.1036+86_1036+87del
ENST00000305544.8:c.1036+86_1036+87del	ENSP00000307156.4:n.1036+86_1036+87del
ENST00000418109.5:c.1036+86_1036+87del	ENSP00000388325.1:n.1036+86_1036+87del
NM_002292.3:c.1036+86_1036+87del	NP_002283.3:n.1036+86_1036+87del
XM_005265127.3:c.1036+86_1036+87del	XP_005265184.1:n.1036+86_1036+87del
XM_005265127.4:c.1036+86_1036+87del	XP_005265184.1:n.1036+86_1036+87del
NM_002292.4:c.1036+86_1036+87del MANE Select	NP_002283.3:n.1036+86_1036+87del