Canonical Allele Identifier: CA352691964
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1575530518
MyVariant Identifiers: chr3:g.49160196A>C (hg19) chr3:g.49122763A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122763A>C , CM000665.2:g.49122763A>C GRCh38
NC_000003.11:g.49160196A>C , CM000665.1:g.49160196A>C GRCh37
NC_000003.10:g.49135200A>C NCBI36
NG_008094.1:g.15404T>G
NG_054716.1:g.3176T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4514T>G MANE Select ENSP00000307156.4:p.Val1505Gly
ENST00000305544.8:c.4514T>G ENSP00000307156.4:p.Val1505Gly
ENST00000418109.5:c.4514T>G ENSP00000388325.1:p.Val1505Gly
ENST00000469665.1:n.823T>G
NM_002292.3:c.4514T>G NP_002283.3:p.Val1505Gly
XM_005265127.3:c.4514T>G XP_005265184.1:p.Val1505Gly
XM_005265127.4:c.4514T>G XP_005265184.1:p.Val1505Gly
NM_002292.4:c.4514T>G MANE Select NP_002283.3:p.Val1505Gly
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