Canonical Allele Identifier: CA352695620
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49160608G>C (hg19) chr3:g.49123175G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123175G>C , CM000665.2:g.49123175G>C GRCh38
NC_000003.11:g.49160608G>C , CM000665.1:g.49160608G>C GRCh37
NC_000003.10:g.49135612G>C NCBI36
NG_008094.1:g.14992C>G
NG_054716.1:g.2764C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4181C>G MANE Select ENSP00000307156.4:p.Ser1394Cys
ENST00000305544.8:c.4181C>G ENSP00000307156.4:p.Ser1394Cys
ENST00000418109.5:c.4181C>G ENSP00000388325.1:p.Ser1394Cys
ENST00000469665.1:n.411C>G
NM_002292.3:c.4181C>G NP_002283.3:p.Ser1394Cys
XM_005265127.3:c.4181C>G XP_005265184.1:p.Ser1394Cys
XM_005265127.4:c.4181C>G XP_005265184.1:p.Ser1394Cys
NM_002292.4:c.4181C>G MANE Select NP_002283.3:p.Ser1394Cys
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