Canonical Allele Identifier: CA352694044
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122941C>T , CM000665.2:g.49122941C>T GRCh38
NC_000003.11:g.49160374C>T , CM000665.1:g.49160374C>T GRCh37
NC_000003.10:g.49135378C>T NCBI36
NG_008094.1:g.15226G>A
NG_054716.1:g.2998G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4336G>A MANE Select ENSP00000307156.4:p.Ala1446Thr
ENST00000305544.8:c.4336G>A ENSP00000307156.4:p.Ala1446Thr
ENST00000418109.5:c.4336G>A ENSP00000388325.1:p.Ala1446Thr
ENST00000469665.1:n.645G>A
NM_002292.3:c.4336G>A NP_002283.3:p.Ala1446Thr
XM_005265127.3:c.4336G>A XP_005265184.1:p.Ala1446Thr
XM_005265127.4:c.4336G>A XP_005265184.1:p.Ala1446Thr
NM_002292.4:c.4336G>A MANE Select NP_002283.3:p.Ala1446Thr