Canonical Allele Identifier: CA433834051
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs2045396143
MyVariant Identifiers: chr3:g.49162485A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125052A>G , CM000665.2:g.49125052A>G GRCh38
NC_000003.11:g.49162485A>G , CM000665.1:g.49162485A>G GRCh37
NC_000003.10:g.49137489A>G NCBI36
NG_008094.1:g.13115T>C
NG_054716.1:g.887T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.2838T>C MANE Select ENSP00000307156.4:p.Asp946=
ENST00000305544.8:c.2838T>C ENSP00000307156.4:p.Asp946=
ENST00000418109.5:c.2838T>C ENSP00000388325.1:p.Asp946=
ENST00000462930.5:n.245T>C
ENST00000464891.5:n.571T>C
ENST00000483057.1:n.438T>C
ENST00000486298.5:n.543T>C
ENST00000542580.1:n.153T>C
NM_002292.3:c.2838T>C NP_002283.3:p.Asp946=
XM_005265127.3:c.2838T>C XP_005265184.1:p.Asp946=
XM_005265127.4:c.2838T>C XP_005265184.1:p.Asp946=
NM_002292.4:c.2838T>C MANE Select NP_002283.3:p.Asp946=