Canonical Allele Identifier: CA352695534
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49123158-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123158G>C , CM000665.2:g.49123158G>C GRCh38
NC_000003.11:g.49160591G>C , CM000665.1:g.49160591G>C GRCh37
NC_000003.10:g.49135595G>C NCBI36
NG_008094.1:g.15009C>G
NG_054716.1:g.2781C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4198C>G MANE Select ENSP00000307156.4:p.Leu1400Val
ENST00000305544.8:c.4198C>G ENSP00000307156.4:p.Leu1400Val
ENST00000418109.5:c.4198C>G ENSP00000388325.1:p.Leu1400Val
ENST00000469665.1:n.428C>G
NM_002292.3:c.4198C>G NP_002283.3:p.Leu1400Val
XM_005265127.3:c.4198C>G XP_005265184.1:p.Leu1400Val
XM_005265127.4:c.4198C>G XP_005265184.1:p.Leu1400Val
NM_002292.4:c.4198C>G MANE Select NP_002283.3:p.Leu1400Val