Canonical Allele Identifier: CA352692338
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49160221T>G (hg19) chr3:g.49122788T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122788T>G , CM000665.2:g.49122788T>G GRCh38
NC_000003.11:g.49160221T>G , CM000665.1:g.49160221T>G GRCh37
NC_000003.10:g.49135225T>G NCBI36
NG_008094.1:g.15379A>C
NG_054716.1:g.3151A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4489A>C MANE Select ENSP00000307156.4:p.Lys1497Gln
ENST00000305544.8:c.4489A>C ENSP00000307156.4:p.Lys1497Gln
ENST00000418109.5:c.4489A>C ENSP00000388325.1:p.Lys1497Gln
ENST00000469665.1:n.798A>C
NM_002292.3:c.4489A>C NP_002283.3:p.Lys1497Gln
XM_005265127.3:c.4489A>C XP_005265184.1:p.Lys1497Gln
XM_005265127.4:c.4489A>C XP_005265184.1:p.Lys1497Gln
NM_002292.4:c.4489A>C MANE Select NP_002283.3:p.Lys1497Gln
Search 100 bp 5'
Search 100 bp 3'