Canonical Allele Identifier: CA352695512
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs2045368091
gnomAD v2: 3-49160587-C-T
MyVariant Identifiers: chr3:g.49160587C>T (hg19) chr3:g.49160587_49160588delinsTT (hg19) chr3:g.49123154C>T (hg38) chr3:g.49123154_49123155delinsTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123154C>T , CM000665.2:g.49123154C>T GRCh38
NC_000003.11:g.49160587C>T , CM000665.1:g.49160587C>T GRCh37
NC_000003.10:g.49135591C>T NCBI36
NG_008094.1:g.15013G>A
NG_054716.1:g.2785G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4202G>A MANE Select ENSP00000307156.4:p.Ser1401Asn
ENST00000305544.8:c.4202G>A ENSP00000307156.4:p.Ser1401Asn
ENST00000418109.5:c.4202G>A ENSP00000388325.1:p.Ser1401Asn
ENST00000469665.1:n.432G>A
NM_002292.3:c.4202G>A NP_002283.3:p.Ser1401Asn
XM_005265127.3:c.4202G>A XP_005265184.1:p.Ser1401Asn
XM_005265127.4:c.4202G>A XP_005265184.1:p.Ser1401Asn
NM_002292.4:c.4202G>A MANE Select NP_002283.3:p.Ser1401Asn
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