Canonical Allele Identifier: CA2665695221

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122839-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122839_49122840insGA , CM000665.2:g.49122839_49122840insGA	GRCh38
NC_000003.11:g.49160272_49160273insGA , CM000665.1:g.49160272_49160273insGA	GRCh37
NC_000003.10:g.49135276_49135277insGA	NCBI36
NG_008094.1:g.15327_15328insTC
NG_054716.1:g.3099_3100insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4437_4438insTC MANE Select	ENSP00000307156.4:p.Thr1480SerfsTer?
ENST00000305544.8:c.4437_4438insTC	ENSP00000307156.4:p.Thr1480SerfsTer?
ENST00000418109.5:c.4437_4438insTC	ENSP00000388325.1:p.Thr1480SerfsTer?
ENST00000469665.1:n.746_747insTC
NM_002292.3:c.4437_4438insTC	NP_002283.3:p.Thr1480SerfsTer?
XM_005265127.3:c.4437_4438insTC	XP_005265184.1:p.Thr1480SerfsTer?
XM_005265127.4:c.4437_4438insTC	XP_005265184.1:p.Thr1480SerfsTer?
NM_002292.4:c.4437_4438insTC MANE Select	NP_002283.3:p.Thr1480SerfsTer?