Canonical Allele Identifier: CA074319
Gene: LAMB2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs267607208

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123179G>A , CM000665.2:g.49123179G>A GRCh38
NC_000003.11:g.49160612G>A , CM000665.1:g.49160612G>A GRCh37
NC_000003.10:g.49135616G>A NCBI36
NG_008094.1:g.14988C>T
NG_054716.1:g.2760C>T

Transcript Alleles

HGVS Amino-acid change
NM_002292.3:c.4177C>T VV NP_002283.3:p.Leu1393Phe
XM_005265127.3:c.4177C>T XP_005265184.1:p.Leu1393Phe
XM_005265127.4:c.4177C>T XP_005265184.1:p.Leu1393Phe
NM_002292.4:c.4177C>T VV MANE Preferred NP_002283.3:p.Leu1393Phe
ENST00000305544.8:c.4177C>T ENSP00000307156.4:p.Leu1393Phe
ENST00000418109.5:c.4177C>T ENSP00000388325.1:p.Leu1393Phe
ENST00000469665.1:n.407C>T