Canonical Allele Identifier: CA56623274
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs976509282
gnomAD v2: 2-136574781-C-T
gnomAD v3: 2-135817211-C-T
gnomAD v4: 2-135817211-C-T
MyVariant Identifiers: chr2:g.136574781C>T (hg19) chr2:g.135817211C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817211C>T , CM000664.2:g.135817211C>T GRCh38
NC_000002.11:g.136574781C>T , CM000664.1:g.136574781C>T GRCh37
NC_000002.10:g.136291251C>T NCBI36
NG_008104.2:g.42959G>A , LRG_338:g.42959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1707+130G>A MANE Select ENSP00000264162.2:n.1707+130G>A
ENST00000264162.6:c.1707+130G>A ENSP00000264162.2:n.1707+130G>A
NM_002299.2:c.1707+130G>A , LRG_338t1:c.1707+130G>A NP_002290.2:n.1707+130G>A
NM_002299.3:c.1707+130G>A NP_002290.2:n.1707+130G>A
XM_017004088.2:c.1707+130G>A XP_016859577.1:n.1707+130G>A
NM_002299.4:c.1707+130G>A MANE Select NP_002290.2:n.1707+130G>A
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