Canonical Allele Identifier: CA1888565
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs745757258
ExAC: 2:136590698 T / C
gnomAD v2: 2-136590698-T-C
gnomAD v3: 2-135833128-T-C
gnomAD v4: 2-135833128-T-C
MyVariant Identifiers: chr2:g.136590698T>C (hg19) chr2:g.135833128T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135833128T>C , CM000664.2:g.135833128T>C GRCh38
NC_000002.11:g.136590698T>C , CM000664.1:g.136590698T>C GRCh37
NC_000002.10:g.136307168T>C NCBI36
NG_008104.2:g.27042A>G , LRG_338:g.27042A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.703A>G MANE Select ENSP00000264162.2:p.Ile235Val
ENST00000264162.6:c.703A>G ENSP00000264162.2:p.Ile235Val
NM_002299.2:c.703A>G , LRG_338t1:c.703A>G NP_002290.2:p.Ile235Val
NM_002299.3:c.703A>G NP_002290.2:p.Ile235Val
XM_017004088.2:c.703A>G XP_016859577.1:p.Ile235Val
NM_002299.4:c.703A>G MANE Select NP_002290.2:p.Ile235Val
Search 100 bp 5'
Search 100 bp 3'