Canonical Allele Identifier: CA348586089

Gene: LCT

Linked Data

• dbSNP Id: rs750409138
• gnomAD v2: 2-136547188-C-G
• gnomAD v4: 2-135789618-C-G
• MyVariant Identifiers: chr2:g.136547188C>G (hg19) ; chr2:g.135789618C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.5516G>C MANE Select	ENSP00000264162.2:p.Gly1839Ala
ENST00000264162.6:c.5516G>C	ENSP00000264162.2:p.Gly1839Ala
NM_002299.2:c.5516G>C , LRG_338t1:c.5516G>C	NP_002290.2:p.Gly1839Ala
NM_002299.3:c.5516G>C	NP_002290.2:p.Gly1839Ala
NM_002299.4:c.5516G>C MANE Select	NP_002290.2:p.Gly1839Ala