Canonical Allele Identifier: CA1887621
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs773121042
ExAC: 2:136547326 C / T
gnomAD v2: 2-136547326-C-T
MyVariant Identifiers: chr2:g.136547326C>T (hg19) chr2:g.135789756C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789756C>T , CM000664.2:g.135789756C>T GRCh38
NC_000002.11:g.136547326C>T , CM000664.1:g.136547326C>T GRCh37
NC_000002.10:g.136263796C>T NCBI36
NG_008104.2:g.70414G>A , LRG_338:g.70414G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5378G>A MANE Select ENSP00000264162.2:p.Ser1793Asn
ENST00000264162.6:c.5378G>A ENSP00000264162.2:p.Ser1793Asn
NM_002299.2:c.5378G>A , LRG_338t1:c.5378G>A NP_002290.2:p.Ser1793Asn
NM_002299.3:c.5378G>A NP_002290.2:p.Ser1793Asn
NM_002299.4:c.5378G>A MANE Select NP_002290.2:p.Ser1793Asn
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