Canonical Allele Identifier: CA348590872
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 982557
ClinVar RCV Id: RCV003222281
dbSNP Id: rs1312031160
gnomAD v4: 2-135798055-G-T
MyVariant Identifiers: chr2:g.136555625G>T (hg19) chr2:g.135798055G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798055G>T , CM000664.2:g.135798055G>T GRCh38
NC_000002.11:g.136555625G>T , CM000664.1:g.136555625G>T GRCh37
NC_000002.10:g.136272095G>T NCBI36
NG_008104.2:g.62115C>A , LRG_338:g.62115C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4950C>A MANE Select ENSP00000264162.2:p.Ser1650Arg
ENST00000264162.6:c.4950C>A ENSP00000264162.2:p.Ser1650Arg
ENST00000452974.1:c.3043C>A ENSP00000391231.1:n.3043C>A
NM_002299.2:c.4950C>A , LRG_338t1:c.4950C>A NP_002290.2:p.Ser1650Arg
NM_002299.3:c.4950C>A NP_002290.2:p.Ser1650Arg
XM_017004088.2:c.4950C>A XP_016859577.1:p.Ser1650Arg
NM_002299.4:c.4950C>A MANE Select NP_002290.2:p.Ser1650Arg
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Search 100 bp 3'