Canonical Allele Identifier: CA352692833
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122832-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122832C>G , CM000665.2:g.49122832C>G GRCh38
NC_000003.11:g.49160265C>G , CM000665.1:g.49160265C>G GRCh37
NC_000003.10:g.49135269C>G NCBI36
NG_008094.1:g.15335G>C
NG_054716.1:g.3107G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4445G>C MANE Select ENSP00000307156.4:p.Arg1482Pro
ENST00000305544.8:c.4445G>C ENSP00000307156.4:p.Arg1482Pro
ENST00000418109.5:c.4445G>C ENSP00000388325.1:p.Arg1482Pro
ENST00000469665.1:n.754G>C
NM_002292.3:c.4445G>C NP_002283.3:p.Arg1482Pro
XM_005265127.3:c.4445G>C XP_005265184.1:p.Arg1482Pro
XM_005265127.4:c.4445G>C XP_005265184.1:p.Arg1482Pro
NM_002292.4:c.4445G>C MANE Select NP_002283.3:p.Arg1482Pro