Canonical Allele Identifier: CA2394272
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2083746
ClinVar RCV Id: RCV003002762
dbSNP Id: rs375968729
ExAC: 3:49162820 G / A
gnomAD v2: 3-49162820-G-A
gnomAD v3: 3-49125387-G-A
gnomAD v4: 3-49125387-G-A
MyVariant Identifiers: chr3:g.49162820G>A (hg19) chr3:g.49125387G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125387G>A , CM000665.2:g.49125387G>A GRCh38
NC_000003.11:g.49162820G>A , CM000665.1:g.49162820G>A GRCh37
NC_000003.10:g.49137824G>A NCBI36
NG_008094.1:g.12780C>T
NG_054716.1:g.552C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2586C>T MANE Select ENSP00000307156.4:p.Asp862=
ENST00000305544.8:c.2586C>T ENSP00000307156.4:p.Asp862=
ENST00000418109.5:c.2586C>T ENSP00000388325.1:p.Asp862=
ENST00000464891.5:n.335C>T
ENST00000477701.1:n.459C>T
ENST00000483057.1:n.186C>T
ENST00000486298.5:n.426-218C>T
NM_002292.3:c.2586C>T NP_002283.3:p.Asp862=
XM_005265127.3:c.2586C>T XP_005265184.1:p.Asp862=
XM_005265127.4:c.2586C>T XP_005265184.1:p.Asp862=
NM_002292.4:c.2586C>T MANE Select NP_002283.3:p.Asp862=
Search 100 bp 5'
Search 100 bp 3'