Canonical Allele Identifier: CA352745669
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49168267G>T (hg19) chr3:g.49130834G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130834G>T , CM000665.2:g.49130834G>T GRCh38
NC_000003.11:g.49168267G>T , CM000665.1:g.49168267G>T GRCh37
NC_000003.10:g.49143271G>T NCBI36
NG_008094.1:g.7333C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.942C>A MANE Select ENSP00000307156.4:p.His314Gln
ENST00000305544.8:c.942C>A ENSP00000307156.4:p.His314Gln
ENST00000418109.5:c.942C>A ENSP00000388325.1:p.His314Gln
NM_002292.3:c.942C>A NP_002283.3:p.His314Gln
XM_005265127.3:c.942C>A XP_005265184.1:p.His314Gln
XM_005265127.4:c.942C>A XP_005265184.1:p.His314Gln
NM_002292.4:c.942C>A MANE Select NP_002283.3:p.His314Gln
Search 100 bp 5'
Search 100 bp 3'