Canonical Allele Identifier: CA757464620
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1249830850
gnomAD v3: 2-135832853-A-G
gnomAD v4: 2-135832853-A-G
MyVariant Identifiers: chr2:g.136590423A>G (hg19) chr2:g.135832853A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135832853A>G , CM000664.2:g.135832853A>G GRCh38
NC_000002.11:g.136590423A>G , CM000664.1:g.136590423A>G GRCh37
NC_000002.10:g.136306893A>G NCBI36
NG_008104.2:g.27317T>C , LRG_338:g.27317T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.720+258T>C MANE Select ENSP00000264162.2:n.720+258T>C
ENST00000264162.6:c.720+258T>C ENSP00000264162.2:n.720+258T>C
NM_002299.2:c.720+258T>C , LRG_338t1:c.720+258T>C NP_002290.2:n.720+258T>C
NM_002299.3:c.720+258T>C NP_002290.2:n.720+258T>C
XM_017004088.2:c.720+258T>C XP_016859577.1:n.720+258T>C
NM_002299.4:c.720+258T>C MANE Select NP_002290.2:n.720+258T>C
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