Canonical Allele Identifier: CA433834485

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162889G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125456G>T , CM000665.2:g.49125456G>T	GRCh38
NC_000003.11:g.49162889G>T , CM000665.1:g.49162889G>T	GRCh37
NC_000003.10:g.49137893G>T	NCBI36
NG_008094.1:g.12711C>A
NG_054716.1:g.483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2517C>A MANE Select	ENSP00000307156.4:p.Leu839=
ENST00000305544.8:c.2517C>A	ENSP00000307156.4:p.Leu839=
ENST00000418109.5:c.2517C>A	ENSP00000388325.1:p.Leu839=
ENST00000464891.5:n.266C>A
ENST00000477701.1:n.390C>A
ENST00000483057.1:n.117C>A
ENST00000486298.5:n.426-287C>A
NM_002292.3:c.2517C>A	NP_002283.3:p.Leu839=
XM_005265127.3:c.2517C>A	XP_005265184.1:p.Leu839=
XM_005265127.4:c.2517C>A	XP_005265184.1:p.Leu839=
NM_002292.4:c.2517C>A MANE Select	NP_002283.3:p.Leu839=