Canonical Allele Identifier: CA352743331
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1391166275
MyVariant Identifiers: chr3:g.49167768C>T (hg19) chr3:g.49130335C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130335C>T , CM000665.2:g.49130335C>T GRCh38
NC_000003.11:g.49167768C>T , CM000665.1:g.49167768C>T GRCh37
NC_000003.10:g.49142772C>T NCBI36
NG_008094.1:g.7832G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.1121G>A MANE Select ENSP00000307156.4:p.Cys374Tyr
ENST00000305544.8:c.1121G>A ENSP00000307156.4:p.Cys374Tyr
ENST00000418109.5:c.1121G>A ENSP00000388325.1:p.Cys374Tyr
NM_002292.3:c.1121G>A NP_002283.3:p.Cys374Tyr
XM_005265127.3:c.1121G>A XP_005265184.1:p.Cys374Tyr
XM_005265127.4:c.1121G>A XP_005265184.1:p.Cys374Tyr
NM_002292.4:c.1121G>A MANE Select NP_002283.3:p.Cys374Tyr
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