Canonical Allele Identifier: CA433834078
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs2045396219
MyVariant Identifiers: chr3:g.49162497A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125064A>C , CM000665.2:g.49125064A>C GRCh38
NC_000003.11:g.49162497A>C , CM000665.1:g.49162497A>C GRCh37
NC_000003.10:g.49137501A>C NCBI36
NG_008094.1:g.13103T>G
NG_054716.1:g.875T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2826T>G MANE Select ENSP00000307156.4:p.Ser942=
ENST00000305544.8:c.2826T>G ENSP00000307156.4:p.Ser942=
ENST00000418109.5:c.2826T>G ENSP00000388325.1:p.Ser942=
ENST00000462930.5:n.233T>G
ENST00000464891.5:n.559T>G
ENST00000483057.1:n.426T>G
ENST00000486298.5:n.531T>G
ENST00000542580.1:n.141T>G
NM_002292.3:c.2826T>G NP_002283.3:p.Ser942=
XM_005265127.3:c.2826T>G XP_005265184.1:p.Ser942=
XM_005265127.4:c.2826T>G XP_005265184.1:p.Ser942=
NM_002292.4:c.2826T>G MANE Select NP_002283.3:p.Ser942=