Canonical Allele Identifier: CA352692568
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122810C>A , CM000665.2:g.49122810C>A GRCh38
NC_000003.11:g.49160243C>A , CM000665.1:g.49160243C>A GRCh37
NC_000003.10:g.49135247C>A NCBI36
NG_008094.1:g.15357G>T
NG_054716.1:g.3129G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4467G>T MANE Select ENSP00000307156.4:p.Gln1489His
ENST00000305544.8:c.4467G>T ENSP00000307156.4:p.Gln1489His
ENST00000418109.5:c.4467G>T ENSP00000388325.1:p.Gln1489His
ENST00000469665.1:n.776G>T
NM_002292.3:c.4467G>T NP_002283.3:p.Gln1489His
XM_005265127.3:c.4467G>T XP_005265184.1:p.Gln1489His
XM_005265127.4:c.4467G>T XP_005265184.1:p.Gln1489His
NM_002292.4:c.4467G>T MANE Select NP_002283.3:p.Gln1489His