Canonical Allele Identifier: CA56595350
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1007678341
gnomAD v2: 2-136547546-G-A
gnomAD v3: 2-135789976-G-A
gnomAD v4: 2-135789976-G-A
MyVariant Identifiers: chr2:g.136547546G>A (hg19) chr2:g.135789976G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789976G>A , CM000664.2:g.135789976G>A GRCh38
NC_000002.11:g.136547546G>A , CM000664.1:g.136547546G>A GRCh37
NC_000002.10:g.136264016G>A NCBI36
NG_008104.2:g.70194C>T , LRG_338:g.70194C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5336-178C>T MANE Select ENSP00000264162.2:n.5336-178C>T
ENST00000264162.6:c.5336-178C>T ENSP00000264162.2:n.5336-178C>T
NM_002299.2:c.5336-178C>T , LRG_338t1:c.5336-178C>T NP_002290.2:n.5336-178C>T
NM_002299.3:c.5336-178C>T NP_002290.2:n.5336-178C>T
NM_002299.4:c.5336-178C>T MANE Select NP_002290.2:n.5336-178C>T
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