Canonical Allele Identifier: CA1887628
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 1629073
ClinVar RCV Id: RCV002116455
dbSNP Id: rs141776969
ExAC: 2:136547382 G / T
gnomAD v2: 2-136547382-G-T
gnomAD v3: 2-135789812-G-T
gnomAD v4: 2-135789812-G-T
MyVariant Identifiers: chr2:g.136547382G>T (hg19) chr2:g.135789812G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789812G>T , CM000664.2:g.135789812G>T GRCh38
NC_000002.11:g.136547382G>T , CM000664.1:g.136547382G>T GRCh37
NC_000002.10:g.136263852G>T NCBI36
NG_008104.2:g.70358C>A , LRG_338:g.70358C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5336-14C>A MANE Select ENSP00000264162.2:n.5336-14C>A
ENST00000264162.6:c.5336-14C>A ENSP00000264162.2:n.5336-14C>A
NM_002299.2:c.5336-14C>A , LRG_338t1:c.5336-14C>A NP_002290.2:n.5336-14C>A
NM_002299.3:c.5336-14C>A NP_002290.2:n.5336-14C>A
NM_002299.4:c.5336-14C>A MANE Select NP_002290.2:n.5336-14C>A
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