Canonical Allele Identifier: CA352695997
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123221A>C , CM000665.2:g.49123221A>C GRCh38
NC_000003.11:g.49160654A>C , CM000665.1:g.49160654A>C GRCh37
NC_000003.10:g.49135658A>C NCBI36
NG_008094.1:g.14946T>G
NG_054716.1:g.2718T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4135T>G MANE Select ENSP00000307156.4:p.Phe1379Val
ENST00000305544.8:c.4135T>G ENSP00000307156.4:p.Phe1379Val
ENST00000418109.5:c.4135T>G ENSP00000388325.1:p.Phe1379Val
ENST00000469665.1:n.365T>G
NM_002292.3:c.4135T>G NP_002283.3:p.Phe1379Val
XM_005265127.3:c.4135T>G XP_005265184.1:p.Phe1379Val
XM_005265127.4:c.4135T>G XP_005265184.1:p.Phe1379Val
NM_002292.4:c.4135T>G MANE Select NP_002283.3:p.Phe1379Val