Canonical Allele Identifier: CA56593544
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs553461607
gnomAD v3: 2-135787981-T-G
gnomAD v4: 2-135787981-T-G
MyVariant Identifiers: chr2:g.136545551T>G (hg19) chr2:g.135787981T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135787981T>G , CM000664.2:g.135787981T>G GRCh38
NC_000002.11:g.136545551T>G , CM000664.1:g.136545551T>G GRCh37
NC_000002.10:g.136262021T>G NCBI36
NG_008104.2:g.72189A>C , LRG_338:g.72189A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.*343A>C MANE Select ENSP00000264162.2:n.*343A>C
ENST00000264162.6:c.*343A>C ENSP00000264162.2:n.*343A>C
NM_002299.2:c.*343A>C , LRG_338t1:c.*343A>C NP_002290.2:n.*343A>C
NM_002299.3:c.*343A>C NP_002290.2:n.*343A>C
NM_002299.4:c.*343A>C MANE Select NP_002290.2:n.*343A>C
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