Canonical Allele Identifier: CA433834136
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs745926869
MyVariant Identifiers: chr3:g.49162514G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125081G>T , CM000665.2:g.49125081G>T GRCh38
NC_000003.11:g.49162514G>T , CM000665.1:g.49162514G>T GRCh37
NC_000003.10:g.49137518G>T NCBI36
NG_008094.1:g.13086C>A
NG_054716.1:g.858C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2809C>A MANE Select ENSP00000307156.4:p.Arg937=
ENST00000305544.8:c.2809C>A ENSP00000307156.4:p.Arg937=
ENST00000418109.5:c.2809C>A ENSP00000388325.1:p.Arg937=
ENST00000462930.5:n.216C>A
ENST00000464891.5:n.542C>A
ENST00000483057.1:n.409C>A
ENST00000486298.5:n.514C>A
ENST00000542580.1:n.124C>A
NM_002292.3:c.2809C>A NP_002283.3:p.Arg937=
XM_005265127.3:c.2809C>A XP_005265184.1:p.Arg937=
XM_005265127.4:c.2809C>A XP_005265184.1:p.Arg937=
NM_002292.4:c.2809C>A MANE Select NP_002283.3:p.Arg937=