Canonical Allele Identifier: CA56593563
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 894022
ClinVar RCV Id: RCV001133554
dbSNP Id: rs1008625417
gnomAD v2: 2-136545619-T-C
gnomAD v3: 2-135788049-T-C
gnomAD v4: 2-135788049-T-C
MyVariant Identifiers: chr2:g.136545619T>C (hg19) chr2:g.135788049T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135788049T>C , CM000664.2:g.135788049T>C GRCh38
NC_000002.11:g.136545619T>C , CM000664.1:g.136545619T>C GRCh37
NC_000002.10:g.136262089T>C NCBI36
NG_008104.2:g.72121A>G , LRG_338:g.72121A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.*275A>G MANE Select ENSP00000264162.2:n.*275A>G
ENST00000264162.6:c.*275A>G ENSP00000264162.2:n.*275A>G
NM_002299.2:c.*275A>G , LRG_338t1:c.*275A>G NP_002290.2:n.*275A>G
NM_002299.3:c.*275A>G NP_002290.2:n.*275A>G
NM_002299.4:c.*275A>G MANE Select NP_002290.2:n.*275A>G
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