Canonical Allele Identifier: CA352693566
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs2045363370

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122898T>A , CM000665.2:g.49122898T>A GRCh38
NC_000003.11:g.49160331T>A , CM000665.1:g.49160331T>A GRCh37
NC_000003.10:g.49135335T>A NCBI36
NG_008094.1:g.15269A>T
NG_054716.1:g.3041A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4379A>T MANE Select ENSP00000307156.4:p.Gln1460Leu
ENST00000305544.8:c.4379A>T ENSP00000307156.4:p.Gln1460Leu
ENST00000418109.5:c.4379A>T ENSP00000388325.1:p.Gln1460Leu
ENST00000469665.1:n.688A>T
NM_002292.3:c.4379A>T NP_002283.3:p.Gln1460Leu
XM_005265127.3:c.4379A>T XP_005265184.1:p.Gln1460Leu
XM_005265127.4:c.4379A>T XP_005265184.1:p.Gln1460Leu
NM_002292.4:c.4379A>T MANE Select NP_002283.3:p.Gln1460Leu