Canonical Allele Identifier: CA144313
Gene: LCT HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.135807214C>T
GRCh37 chr2:g.136564784C>T
Revel Score:
ENST00000264162 (MANE Select) 0.638
ENST00000455227 0.638
gnomAD v2:
2:136564784 C / T
gnomAD v3:
2:135807214 C / T
gnomAD v4:
chr2-135807214-C-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000049801
ClinVar Variation:
56388
dbSNP:
386833833
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135807214C>T , CM000664.2:g.135807214C>T GRCh38
NC_000002.11:g.136564784C>T , CM000664.1:g.136564784C>T GRCh37
NC_000002.10:g.136281254C>T NCBI36
NG_008104.2:g.52956G>A , LRG_338:g.52956G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4087G>A MANE Select ENSP00000264162.2:p.Gly1363Ser
ENST00000264162.6:c.4087G>A ENSP00000264162.2:p.Gly1363Ser
ENST00000452974.1:c.2383G>A ENSP00000391231.1:p.Gly795Ser
NM_002299.2:c.4087G>A , LRG_338t1:c.4087G>A NP_002290.2:p.Gly1363Ser
NM_002299.3:c.4087G>A NP_002290.2:p.Gly1363Ser
XM_017004088.2:c.4087G>A XP_016859577.1:p.Gly1363Ser
NM_002299.4:c.4087G>A MANE Select NP_002290.2:p.Gly1363Ser
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