Canonical Allele Identifier: CA074324

Gene: LAMB2

Linked Data

• PubMed: PMID:16912710

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.[49123179G>A;49123216G>T] , CM000665.2:g.[49123179G>A;49123216G>T]	GRCh38
NC_000003.11:g.[49160612G>A;49160649G>T] , CM000665.1:g.[49160612G>A;49160649G>T]	GRCh37
NC_000003.10:g.[49135616G>A;49135653G>T]	NCBI36
NG_008094.1:g.[14951C>A;14988C>T]
NG_054716.1:g.[2723C>A;2760C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.[4140C>A;4177C>T] MANE Select	ENSP00000307156.4:p.[Asn1380Lys;Leu1393Phe]
ENST00000305544.8:c.[4140C>A;4177C>T]	ENSP00000307156.4:p.[Asn1380Lys;Leu1393Phe]
ENST00000418109.5:c.[4140C>A;4177C>T]	ENSP00000388325.1:p.[Asn1380Lys;Leu1393Phe]
ENST00000469665.1:n.[370C>A;407C>T]
NM_002292.3:c.[4140C>A;4177C>T]	NP_002283.3:p.[Asn1380Lys;Leu1393Phe]
XM_005265127.3:c.[4140C>A;4177C>T]	XP_005265184.1:p.[Asn1380Lys;Leu1393Phe]
XM_005265127.4:c.[4140C>A;4177C>T]	XP_005265184.1:p.[Asn1380Lys;Leu1393Phe]
NM_002292.4:c.[4140C>A;4177C>T] MANE Select	NP_002283.3:p.[Asn1380Lys;Leu1393Phe]