Canonical Allele Identifier: CA757453335
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1329729964
gnomAD v3: 2-135787932-A-C
gnomAD v4: 2-135787932-A-C
MyVariant Identifiers: chr2:g.136545502A>C (hg19) chr2:g.135787932A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135787932A>C , CM000664.2:g.135787932A>C GRCh38
NC_000002.11:g.136545502A>C , CM000664.1:g.136545502A>C GRCh37
NC_000002.10:g.136261972A>C NCBI36
NG_008104.2:g.72238T>G , LRG_338:g.72238T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.*392T>G MANE Select ENSP00000264162.2:n.*392T>G
ENST00000264162.6:c.*392T>G ENSP00000264162.2:n.*392T>G
NM_002299.2:c.*392T>G , LRG_338t1:c.*392T>G NP_002290.2:n.*392T>G
NM_002299.3:c.*392T>G NP_002290.2:n.*392T>G
NM_002299.4:c.*392T>G MANE Select NP_002290.2:n.*392T>G
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