Canonical Allele Identifier: CA352744438
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130746A>C , CM000665.2:g.49130746A>C GRCh38
NC_000003.11:g.49168179A>C , CM000665.1:g.49168179A>C GRCh37
NC_000003.10:g.49143183A>C NCBI36
NG_008094.1:g.7421T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.1030T>G MANE Select ENSP00000307156.4:p.Cys344Gly
ENST00000305544.8:c.1030T>G ENSP00000307156.4:p.Cys344Gly
ENST00000418109.5:c.1030T>G ENSP00000388325.1:p.Cys344Gly
NM_002292.3:c.1030T>G NP_002283.3:p.Cys344Gly
XM_005265127.3:c.1030T>G XP_005265184.1:p.Cys344Gly
XM_005265127.4:c.1030T>G XP_005265184.1:p.Cys344Gly
NM_002292.4:c.1030T>G MANE Select NP_002283.3:p.Cys344Gly