Canonical Allele Identifier: CA1887604

Gene: LCT

Linked Data

• ClinVar Variation Id: 2662435
• ClinVar RCV Id: RCV003443930
• dbSNP Id: rs750409138
• ExAC: 2:136547188 C / T
• gnomAD v2: 2-136547188-C-T
• gnomAD v3: 2-135789618-C-T
• gnomAD v4: 2-135789618-C-T
• MyVariant Identifiers: chr2:g.136547188C>T (hg19) ; chr2:g.135789618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135789618C>T , CM000664.2:g.135789618C>T	GRCh38
NC_000002.11:g.136547188C>T , CM000664.1:g.136547188C>T	GRCh37
NC_000002.10:g.136263658C>T	NCBI36
NG_008104.2:g.70552G>A , LRG_338:g.70552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.5516G>A MANE Select	ENSP00000264162.2:p.Gly1839Asp
ENST00000264162.6:c.5516G>A	ENSP00000264162.2:p.Gly1839Asp
NM_002299.2:c.5516G>A , LRG_338t1:c.5516G>A	NP_002290.2:p.Gly1839Asp
NM_002299.3:c.5516G>A	NP_002290.2:p.Gly1839Asp
NM_002299.4:c.5516G>A MANE Select	NP_002290.2:p.Gly1839Asp