Canonical Allele Identifier: CA10612265
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 331157
ClinVar RCV Id: RCV000279167 RCV000392278
dbSNP Id: rs886054860
gnomAD v4: 2-135788073-C-T
MyVariant Identifiers: chr2:g.136545643C>T (hg19) chr2:g.135788073C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135788073C>T , CM000664.2:g.135788073C>T GRCh38
NC_000002.11:g.136545643C>T , CM000664.1:g.136545643C>T GRCh37
NC_000002.10:g.136262113C>T NCBI36
NG_008104.2:g.72097G>A , LRG_338:g.72097G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.*251G>A MANE Select ENSP00000264162.2:n.*251G>A
ENST00000264162.6:c.*251G>A ENSP00000264162.2:n.*251G>A
NM_002299.2:c.*251G>A , LRG_338t1:c.*251G>A NP_002290.2:n.*251G>A
NM_002299.3:c.*251G>A NP_002290.2:n.*251G>A
NM_002299.4:c.*251G>A MANE Select NP_002290.2:n.*251G>A
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