Canonical Allele Identifier: CA352692257
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49160213A>C (hg19) chr3:g.49122780A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122780A>C , CM000665.2:g.49122780A>C GRCh38
NC_000003.11:g.49160213A>C , CM000665.1:g.49160213A>C GRCh37
NC_000003.10:g.49135217A>C NCBI36
NG_008094.1:g.15387T>G
NG_054716.1:g.3159T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4497T>G MANE Select ENSP00000307156.4:p.Asn1499Lys
ENST00000305544.8:c.4497T>G ENSP00000307156.4:p.Asn1499Lys
ENST00000418109.5:c.4497T>G ENSP00000388325.1:p.Asn1499Lys
ENST00000469665.1:n.806T>G
NM_002292.3:c.4497T>G NP_002283.3:p.Asn1499Lys
XM_005265127.3:c.4497T>G XP_005265184.1:p.Asn1499Lys
XM_005265127.4:c.4497T>G XP_005265184.1:p.Asn1499Lys
NM_002292.4:c.4497T>G MANE Select NP_002283.3:p.Asn1499Lys
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