Canonical Allele Identifier: CA1888368
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 2712234
ClinVar RCV Id: RCV003545718
dbSNP Id: rs369866177
ExAC: 2:136574995 A / G
gnomAD v2: 2-136574995-A-G
gnomAD v3: 2-135817425-A-G
gnomAD v4: 2-135817425-A-G
MyVariant Identifiers: chr2:g.136574995A>G (hg19) chr2:g.135817425A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817425A>G , CM000664.2:g.135817425A>G GRCh38
NC_000002.11:g.136574995A>G , CM000664.1:g.136574995A>G GRCh37
NC_000002.10:g.136291465A>G NCBI36
NG_008104.2:g.42745T>C , LRG_338:g.42745T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1623T>C MANE Select ENSP00000264162.2:p.His541=
ENST00000264162.6:c.1623T>C ENSP00000264162.2:p.His541=
NM_002299.2:c.1623T>C , LRG_338t1:c.1623T>C NP_002290.2:p.His541=
NM_002299.3:c.1623T>C NP_002290.2:p.His541=
XM_017004088.2:c.1623T>C XP_016859577.1:p.His541=
NM_002299.4:c.1623T>C MANE Select NP_002290.2:p.His541=
Search 100 bp 5'
Search 100 bp 3'