Canonical Allele Identifier: CA2394727
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 733101
ClinVar RCV Id: RCV000908335
dbSNP Id: rs150731491
ExAC: 3:49168195 G / A
gnomAD v2: 3-49168195-G-A
gnomAD v3: 3-49130762-G-A
gnomAD v4: 3-49130762-G-A
MyVariant Identifiers: chr3:g.49168195G>A (hg19) chr3:g.49130762G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130762G>A , CM000665.2:g.49130762G>A GRCh38
NC_000003.11:g.49168195G>A , CM000665.1:g.49168195G>A GRCh37
NC_000003.10:g.49143199G>A NCBI36
NG_008094.1:g.7405C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.1014C>T MANE Select ENSP00000307156.4:p.Asp338=
ENST00000305544.8:c.1014C>T ENSP00000307156.4:p.Asp338=
ENST00000418109.5:c.1014C>T ENSP00000388325.1:p.Asp338=
NM_002292.3:c.1014C>T NP_002283.3:p.Asp338=
XM_005265127.3:c.1014C>T XP_005265184.1:p.Asp338=
XM_005265127.4:c.1014C>T XP_005265184.1:p.Asp338=
NM_002292.4:c.1014C>T MANE Select NP_002283.3:p.Asp338=
Search 100 bp 5'
Search 100 bp 3'