Canonical Allele Identifier: CA348585852
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136547145C>G (hg19) chr2:g.135789575C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789575C>G , CM000664.2:g.135789575C>G GRCh38
NC_000002.11:g.136547145C>G , CM000664.1:g.136547145C>G GRCh37
NC_000002.10:g.136263615C>G NCBI36
NG_008104.2:g.70595G>C , LRG_338:g.70595G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5559G>C MANE Select ENSP00000264162.2:p.Gln1853His
ENST00000264162.6:c.5559G>C ENSP00000264162.2:p.Gln1853His
NM_002299.2:c.5559G>C , LRG_338t1:c.5559G>C NP_002290.2:p.Gln1853His
NM_002299.3:c.5559G>C NP_002290.2:p.Gln1853His
NM_002299.4:c.5559G>C MANE Select NP_002290.2:p.Gln1853His
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