Canonical Allele Identifier: CA2665695329

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122864-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122866del , CM000665.2:g.49122866del	GRCh38
NC_000003.11:g.49160299del , CM000665.1:g.49160299del	GRCh37
NC_000003.10:g.49135303del	NCBI36
NG_008094.1:g.15302del
NG_054716.1:g.3074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4412del MANE Select	ENSP00000307156.4:p.Gly1471ValfsTer?
ENST00000305544.8:c.4412del	ENSP00000307156.4:p.Gly1471ValfsTer?
ENST00000418109.5:c.4412del	ENSP00000388325.1:p.Gly1471ValfsTer?
ENST00000469665.1:n.721del
NM_002292.3:c.4412del	NP_002283.3:p.Gly1471ValfsTer?
XM_005265127.3:c.4412del	XP_005265184.1:p.Gly1471ValfsTer?
XM_005265127.4:c.4412del	XP_005265184.1:p.Gly1471ValfsTer?
NM_002292.4:c.4412del MANE Select	NP_002283.3:p.Gly1471ValfsTer?