Canonical Allele Identifier: CA352692286
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49160217G>C (hg19) chr3:g.49122784G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122784G>C , CM000665.2:g.49122784G>C GRCh38
NC_000003.11:g.49160217G>C , CM000665.1:g.49160217G>C GRCh37
NC_000003.10:g.49135221G>C NCBI36
NG_008094.1:g.15383C>G
NG_054716.1:g.3155C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4493C>G MANE Select ENSP00000307156.4:p.Ala1498Gly
ENST00000305544.8:c.4493C>G ENSP00000307156.4:p.Ala1498Gly
ENST00000418109.5:c.4493C>G ENSP00000388325.1:p.Ala1498Gly
ENST00000469665.1:n.802C>G
NM_002292.3:c.4493C>G NP_002283.3:p.Ala1498Gly
XM_005265127.3:c.4493C>G XP_005265184.1:p.Ala1498Gly
XM_005265127.4:c.4493C>G XP_005265184.1:p.Ala1498Gly
NM_002292.4:c.4493C>G MANE Select NP_002283.3:p.Ala1498Gly
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