Canonical Allele Identifier: CA1888411
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 1918552
ClinVar RCV Id: RCV002602025
dbSNP Id: rs754851412
ExAC: 2:136575327 C / T
gnomAD v2: 2-136575327-C-T
gnomAD v3: 2-135817757-C-T
gnomAD v4: 2-135817757-C-T
COSMIC: COSM3961182
MyVariant Identifiers: chr2:g.136575327C>T (hg19) chr2:g.135817757C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817757C>T , CM000664.2:g.135817757C>T GRCh38
NC_000002.11:g.136575327C>T , CM000664.1:g.136575327C>T GRCh37
NC_000002.10:g.136291797C>T NCBI36
NG_008104.2:g.42413G>A , LRG_338:g.42413G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1291G>A MANE Select ENSP00000264162.2:p.Asp431Asn
ENST00000264162.6:c.1291G>A ENSP00000264162.2:p.Asp431Asn
NM_002299.2:c.1291G>A , LRG_338t1:c.1291G>A NP_002290.2:p.Asp431Asn
NM_002299.3:c.1291G>A NP_002290.2:p.Asp431Asn
XM_017004088.2:c.1291G>A XP_016859577.1:p.Asp431Asn
NM_002299.4:c.1291G>A MANE Select NP_002290.2:p.Asp431Asn
Search 100 bp 5'
Search 100 bp 3'