Canonical Allele Identifier: CA124112
Gene: LAMB2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49131128C>T
GRCh37 chr3:g.49168561C>T
Revel Score:
ENST00000418109 0.924
ENST00000305544 (MANE Select) 0.924
ENST00000494831 0.924
ClinVar Allele:
29573
ClinVar RCV:
RCV000015633
ClinVar Variation:
14534
dbSNP:
121912491
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49131128C>T , CM000665.2:g.49131128C>T GRCh38
NC_000003.11:g.49168561C>T , CM000665.1:g.49168561C>T GRCh37
NC_000003.10:g.49143565C>T NCBI36
NG_008094.1:g.7039G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.737G>A MANE Select ENSP00000307156.4:p.Arg246Gln
ENST00000305544.8:c.737G>A ENSP00000307156.4:p.Arg246Gln
ENST00000418109.5:c.737G>A ENSP00000388325.1:p.Arg246Gln
ENST00000494831.1:c.290G>A ENSP00000444751.1:p.Arg97Gln
NM_002292.3:c.737G>A NP_002283.3:p.Arg246Gln
XM_005265127.3:c.737G>A XP_005265184.1:p.Arg246Gln
XM_005265127.4:c.737G>A XP_005265184.1:p.Arg246Gln
NM_002292.4:c.737G>A MANE Select NP_002283.3:p.Arg246Gln
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Search 100 bp 3'