Canonical Allele Identifier: CA348606315

Gene: LCT

Linked Data

• dbSNP Id: rs1408478665
• gnomAD v2: 2-136575242-C-A
• MyVariant Identifiers: chr2:g.136575242C>A (hg19) ; chr2:g.135817672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817672C>A , CM000664.2:g.135817672C>A	GRCh38
NC_000002.11:g.136575242C>A , CM000664.1:g.136575242C>A	GRCh37
NC_000002.10:g.136291712C>A	NCBI36
NG_008104.2:g.42498G>T , LRG_338:g.42498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.1376G>T MANE Select	ENSP00000264162.2:p.Arg459Leu
ENST00000264162.6:c.1376G>T	ENSP00000264162.2:p.Arg459Leu
NM_002299.2:c.1376G>T , LRG_338t1:c.1376G>T	NP_002290.2:p.Arg459Leu
NM_002299.3:c.1376G>T	NP_002290.2:p.Arg459Leu
XM_017004088.2:c.1376G>T	XP_016859577.1:p.Arg459Leu
NM_002299.4:c.1376G>T MANE Select	NP_002290.2:p.Arg459Leu