Canonical Allele Identifier: CA1887763
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 1166895
ClinVar RCV Id: RCV001515602 RCV001529150
dbSNP Id: rs748841
ExAC: 2:136558157 C / T
gnomAD v2: 2-136558157-C-T
gnomAD v3: 2-135800587-C-T
gnomAD v4: 2-135800587-C-T
MyVariant Identifiers: chr2:g.136558157C>T (hg19) chr2:g.135800587C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800587C>T , CM000664.2:g.135800587C>T GRCh38
NC_000002.11:g.136558157C>T , CM000664.1:g.136558157C>T GRCh37
NC_000002.10:g.136274627C>T NCBI36
NG_008104.2:g.59583G>A , LRG_338:g.59583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4866+20G>A MANE Select ENSP00000264162.2:n.4866+20G>A
ENST00000264162.6:c.4866+20G>A ENSP00000264162.2:n.4866+20G>A
ENST00000452974.1:c.2960-2449G>A ENSP00000391231.1:n.2960-2449G>A
NM_002299.2:c.4866+20G>A , LRG_338t1:c.4866+20G>A NP_002290.2:n.4866+20G>A
NM_002299.3:c.4866+20G>A NP_002290.2:n.4866+20G>A
XM_017004088.2:c.4866+20G>A XP_016859577.1:n.4866+20G>A
NM_002299.4:c.4866+20G>A MANE Select NP_002290.2:n.4866+20G>A
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