Canonical Allele Identifier: CA2393855
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3117601
ClinVar RCV Id: RCV004409912
dbSNP Id: rs750803630
gnomAD v2: 3-49160621-G-A
gnomAD v3: 3-49123188-G-A
gnomAD v4: 3-49123188-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123188G>A , CM000665.2:g.49123188G>A GRCh38
NC_000003.11:g.49160621G>A , CM000665.1:g.49160621G>A GRCh37
NC_000003.10:g.49135625G>A NCBI36
NG_008094.1:g.14979C>T
NG_054716.1:g.2751C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4168C>T MANE Select ENSP00000307156.4:p.Leu1390Phe
ENST00000305544.8:c.4168C>T ENSP00000307156.4:p.Leu1390Phe
ENST00000418109.5:c.4168C>T ENSP00000388325.1:p.Leu1390Phe
ENST00000469665.1:n.398C>T
NM_002292.3:c.4168C>T NP_002283.3:p.Leu1390Phe
XM_005265127.3:c.4168C>T XP_005265184.1:p.Leu1390Phe
XM_005265127.4:c.4168C>T XP_005265184.1:p.Leu1390Phe
NM_002292.4:c.4168C>T MANE Select NP_002283.3:p.Leu1390Phe