Canonical Allele Identifier: CA2394282
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 707414
ClinVar RCV Id: RCV000878392 RCV001148353 RCV001148354
dbSNP Id: rs374958213
ExAC: 3:49162924 G / A
gnomAD v2: 3-49162924-G-A
gnomAD v3: 3-49125491-G-A
gnomAD v4: 3-49125491-G-A
MyVariant Identifiers: chr3:g.49162924G>A (hg19) chr3:g.49125491G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125491G>A , CM000665.2:g.49125491G>A GRCh38
NC_000003.11:g.49162924G>A , CM000665.1:g.49162924G>A GRCh37
NC_000003.10:g.49137928G>A NCBI36
NG_008094.1:g.12676C>T
NG_054716.1:g.448C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2489-7C>T MANE Select ENSP00000307156.4:n.2489-7C>T
ENST00000305544.8:c.2489-7C>T ENSP00000307156.4:n.2489-7C>T
ENST00000418109.5:c.2489-7C>T ENSP00000388325.1:n.2489-7C>T
ENST00000464891.5:n.231C>T
ENST00000477701.1:n.362-7C>T
ENST00000483057.1:n.82C>T
ENST00000486298.5:n.426-322C>T
NM_002292.3:c.2489-7C>T NP_002283.3:n.2489-7C>T
XM_005265127.3:c.2489-7C>T XP_005265184.1:n.2489-7C>T
XM_005265127.4:c.2489-7C>T XP_005265184.1:n.2489-7C>T
NM_002292.4:c.2489-7C>T MANE Select NP_002283.3:n.2489-7C>T
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