Canonical Allele Identifier: CA1887630
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs780621823
ExAC: 2:136547386 AC / A
gnomAD v2: 2-136547386-AC-A
gnomAD v4: 2-135789816-AC-A
MyVariant Identifiers: chr2:g.136547387del (hg19) chr2:g.135789817del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789817del , CM000664.2:g.135789817del GRCh38
NC_000002.11:g.136547387del , CM000664.1:g.136547387del GRCh37
NC_000002.10:g.136263857del NCBI36
NG_008104.2:g.70353del , LRG_338:g.70353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5336-19del MANE Select ENSP00000264162.2:n.5336-19del
ENST00000264162.6:c.5336-19del ENSP00000264162.2:n.5336-19del
NM_002299.2:c.5336-19del , LRG_338t1:c.5336-19del NP_002290.2:n.5336-19del
NM_002299.3:c.5336-19del NP_002290.2:n.5336-19del
NM_002299.4:c.5336-19del MANE Select NP_002290.2:n.5336-19del
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