Canonical Allele Identifier: CA352744435
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49168179A>T (hg19) chr3:g.49130746A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130746A>T , CM000665.2:g.49130746A>T GRCh38
NC_000003.11:g.49168179A>T , CM000665.1:g.49168179A>T GRCh37
NC_000003.10:g.49143183A>T NCBI36
NG_008094.1:g.7421T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.1030T>A MANE Select ENSP00000307156.4:p.Cys344Ser
ENST00000305544.8:c.1030T>A ENSP00000307156.4:p.Cys344Ser
ENST00000418109.5:c.1030T>A ENSP00000388325.1:p.Cys344Ser
NM_002292.3:c.1030T>A NP_002283.3:p.Cys344Ser
XM_005265127.3:c.1030T>A XP_005265184.1:p.Cys344Ser
XM_005265127.4:c.1030T>A XP_005265184.1:p.Cys344Ser
NM_002292.4:c.1030T>A MANE Select NP_002283.3:p.Cys344Ser
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