Canonical Allele Identifier: CA433834481
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162883A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125450A>G , CM000665.2:g.49125450A>G GRCh38
NC_000003.11:g.49162883A>G , CM000665.1:g.49162883A>G GRCh37
NC_000003.10:g.49137887A>G NCBI36
NG_008094.1:g.12717T>C
NG_054716.1:g.489T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2523T>C MANE Select ENSP00000307156.4:p.Ser841=
ENST00000305544.8:c.2523T>C ENSP00000307156.4:p.Ser841=
ENST00000418109.5:c.2523T>C ENSP00000388325.1:p.Ser841=
ENST00000464891.5:n.272T>C
ENST00000477701.1:n.396T>C
ENST00000483057.1:n.123T>C
ENST00000486298.5:n.426-281T>C
NM_002292.3:c.2523T>C NP_002283.3:p.Ser841=
XM_005265127.3:c.2523T>C XP_005265184.1:p.Ser841=
XM_005265127.4:c.2523T>C XP_005265184.1:p.Ser841=
NM_002292.4:c.2523T>C MANE Select NP_002283.3:p.Ser841=