Canonical Allele Identifier: CA352692725
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122822G>C , CM000665.2:g.49122822G>C GRCh38
NC_000003.11:g.49160255G>C , CM000665.1:g.49160255G>C GRCh37
NC_000003.10:g.49135259G>C NCBI36
NG_008094.1:g.15345C>G
NG_054716.1:g.3117C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4455C>G MANE Select ENSP00000307156.4:p.Ser1485Arg
ENST00000305544.8:c.4455C>G ENSP00000307156.4:p.Ser1485Arg
ENST00000418109.5:c.4455C>G ENSP00000388325.1:p.Ser1485Arg
ENST00000469665.1:n.764C>G
NM_002292.3:c.4455C>G NP_002283.3:p.Ser1485Arg
XM_005265127.3:c.4455C>G XP_005265184.1:p.Ser1485Arg
XM_005265127.4:c.4455C>G XP_005265184.1:p.Ser1485Arg
NM_002292.4:c.4455C>G MANE Select NP_002283.3:p.Ser1485Arg