Canonical Allele Identifier: CA2665695215

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122838-G-GCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122838_49122839insCGA , CM000665.2:g.49122838_49122839insCGA	GRCh38
NC_000003.11:g.49160271_49160272insCGA , CM000665.1:g.49160271_49160272insCGA	GRCh37
NC_000003.10:g.49135275_49135276insCGA	NCBI36
NG_008094.1:g.15328_15329insTCG
NG_054716.1:g.3100_3101insTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4438_4439insTCG MANE Select	ENSP00000307156.4:p.Thr1480delinsIleAla
ENST00000305544.8:c.4438_4439insTCG	ENSP00000307156.4:p.Thr1480delinsIleAla
ENST00000418109.5:c.4438_4439insTCG	ENSP00000388325.1:p.Thr1480delinsIleAla
ENST00000469665.1:n.747_748insTCG
NM_002292.3:c.4438_4439insTCG	NP_002283.3:p.Thr1480delinsIleAla
XM_005265127.3:c.4438_4439insTCG	XP_005265184.1:p.Thr1480delinsIleAla
XM_005265127.4:c.4438_4439insTCG	XP_005265184.1:p.Thr1480delinsIleAla
NM_002292.4:c.4438_4439insTCG MANE Select	NP_002283.3:p.Thr1480delinsIleAla