Canonical Allele Identifier: CA144322
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 56392
ClinVar RCV Id: RCV000049805
dbSNP Id: rs386833837
MyVariant Identifiers: chr2:g.136547317del (hg19) chr2:g.135789747del (hg38)
PubMed: PMID:22688420
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789747del , CM000664.2:g.135789747del GRCh38
NC_000002.11:g.136547317del , CM000664.1:g.136547317del GRCh37
NC_000002.10:g.136263787del NCBI36
NG_008104.2:g.70423del , LRG_338:g.70423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5387del MANE Select ENSP00000264162.2:p.Asp1796AlafsTer18
ENST00000264162.6:c.5387del ENSP00000264162.2:p.Asp1796AlafsTer18
NM_002299.2:c.5387del , LRG_338t1:c.5387del NP_002290.2:p.Asp1796AlafsTer18
NM_002299.3:c.5387del NP_002290.2:p.Asp1796AlafsTer18
NM_002299.4:c.5387del MANE Select NP_002290.2:p.Asp1796AlafsTer18
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