Canonical Allele Identifier: CA348592274
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 2584498
ClinVar RCV Id: RCV003335938 RCV003669389
dbSNP Id: rs1276818330
gnomAD v3: 2-135800605-A-C
gnomAD v4: 2-135800605-A-C
MyVariant Identifiers: chr2:g.136558175A>C (hg19) chr2:g.135800605A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800605A>C , CM000664.2:g.135800605A>C GRCh38
NC_000002.11:g.136558175A>C , CM000664.1:g.136558175A>C GRCh37
NC_000002.10:g.136274645A>C NCBI36
NG_008104.2:g.59565T>G , LRG_338:g.59565T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4866+2T>G MANE Select ENSP00000264162.2:n.4866+2T>G
ENST00000264162.6:c.4866+2T>G ENSP00000264162.2:n.4866+2T>G
ENST00000452974.1:c.2960-2467T>G ENSP00000391231.1:n.2960-2467T>G
NM_002299.2:c.4866+2T>G , LRG_338t1:c.4866+2T>G NP_002290.2:n.4866+2T>G
NM_002299.3:c.4866+2T>G NP_002290.2:n.4866+2T>G
XM_017004088.2:c.4866+2T>G XP_016859577.1:n.4866+2T>G
NM_002299.4:c.4866+2T>G MANE Select NP_002290.2:n.4866+2T>G
Search 100 bp 5'
Search 100 bp 3'