Canonical Allele Identifier: CA2393777
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2032530
ClinVar RCV Id: RCV002884972
dbSNP Id: rs774991974
ExAC: 3:49160222 G / T
gnomAD v2: 3-49160222-G-T
gnomAD v3: 3-49122789-G-T
gnomAD v4: 3-49122789-G-T
MyVariant Identifiers: chr3:g.49160222G>T (hg19) chr3:g.49122789G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122789G>T , CM000665.2:g.49122789G>T GRCh38
NC_000003.11:g.49160222G>T , CM000665.1:g.49160222G>T GRCh37
NC_000003.10:g.49135226G>T NCBI36
NG_008094.1:g.15378C>A
NG_054716.1:g.3150C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4488C>A MANE Select ENSP00000307156.4:p.Asp1496Glu
ENST00000305544.8:c.4488C>A ENSP00000307156.4:p.Asp1496Glu
ENST00000418109.5:c.4488C>A ENSP00000388325.1:p.Asp1496Glu
ENST00000469665.1:n.797C>A
NM_002292.3:c.4488C>A NP_002283.3:p.Asp1496Glu
XM_005265127.3:c.4488C>A XP_005265184.1:p.Asp1496Glu
XM_005265127.4:c.4488C>A XP_005265184.1:p.Asp1496Glu
NM_002292.4:c.4488C>A MANE Select NP_002283.3:p.Asp1496Glu
Search 100 bp 5'
Search 100 bp 3'