Canonical Allele Identifier: CA352695800
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49160630G>T (hg19) chr3:g.49123197G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123197G>T , CM000665.2:g.49123197G>T GRCh38
NC_000003.11:g.49160630G>T , CM000665.1:g.49160630G>T GRCh37
NC_000003.10:g.49135634G>T NCBI36
NG_008094.1:g.14970C>A
NG_054716.1:g.2742C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.4159C>A MANE Select ENSP00000307156.4:p.Gln1387Lys
ENST00000305544.8:c.4159C>A ENSP00000307156.4:p.Gln1387Lys
ENST00000418109.5:c.4159C>A ENSP00000388325.1:p.Gln1387Lys
ENST00000469665.1:n.389C>A
NM_002292.3:c.4159C>A NP_002283.3:p.Gln1387Lys
XM_005265127.3:c.4159C>A XP_005265184.1:p.Gln1387Lys
XM_005265127.4:c.4159C>A XP_005265184.1:p.Gln1387Lys
NM_002292.4:c.4159C>A MANE Select NP_002283.3:p.Gln1387Lys
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