Canonical Allele Identifier: CA56602642
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs975721339
gnomAD v2: 2-136555632-T-C
gnomAD v3: 2-135798062-T-C
gnomAD v4: 2-135798062-T-C
MyVariant Identifiers: chr2:g.136555632T>C (hg19) chr2:g.135798062T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798062T>C , CM000664.2:g.135798062T>C GRCh38
NC_000002.11:g.136555632T>C , CM000664.1:g.136555632T>C GRCh37
NC_000002.10:g.136272102T>C NCBI36
NG_008104.2:g.62108A>G , LRG_338:g.62108A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4943A>G MANE Select ENSP00000264162.2:p.Asp1648Gly
ENST00000264162.6:c.4943A>G ENSP00000264162.2:p.Asp1648Gly
ENST00000452974.1:c.3036A>G ENSP00000391231.1:n.3036A>G
NM_002299.2:c.4943A>G , LRG_338t1:c.4943A>G NP_002290.2:p.Asp1648Gly
NM_002299.3:c.4943A>G NP_002290.2:p.Asp1648Gly
XM_017004088.2:c.4943A>G XP_016859577.1:p.Asp1648Gly
NM_002299.4:c.4943A>G MANE Select NP_002290.2:p.Asp1648Gly
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