Canonical Allele Identifier: CA1363339543

Gene: LAMB2

Linked Data

• dbSNP Id: rs2045399394

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125247T>C , CM000665.2:g.49125247T>C	GRCh38
NC_000003.11:g.49162680T>C , CM000665.1:g.49162680T>C	GRCh37
NC_000003.10:g.49137684T>C	NCBI36
NG_008094.1:g.12920A>G
NG_054716.1:g.692A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2720+6A>G MANE Select	ENSP00000307156.4:n.2720+6A>G
ENST00000305544.8:c.2720+6A>G	ENSP00000307156.4:n.2720+6A>G
ENST00000418109.5:c.2720+6A>G	ENSP00000388325.1:n.2720+6A>G
ENST00000462930.5:n.127+6A>G
ENST00000464891.5:n.453+22A>G
ENST00000483057.1:n.320+6A>G
ENST00000486298.5:n.426-78A>G
NM_002292.3:c.2720+6A>G	NP_002283.3:n.2720+6A>G
XM_005265127.3:c.2720+6A>G	XP_005265184.1:n.2720+6A>G
XM_005265127.4:c.2720+6A>G	XP_005265184.1:n.2720+6A>G
NM_002292.4:c.2720+6A>G MANE Select	NP_002283.3:n.2720+6A>G