Canonical Allele Identifier: CA1888578

Gene: LCT

Linked Data

• dbSNP Id: rs767592359
• ExAC: 2:136590752 G / C
• gnomAD v2: 2-136590752-G-C
• gnomAD v4: 2-135833182-G-C
• MyVariant Identifiers: chr2:g.136590752G>C (hg19) ; chr2:g.135833182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135833182G>C , CM000664.2:g.135833182G>C	GRCh38
NC_000002.11:g.136590752G>C , CM000664.1:g.136590752G>C	GRCh37
NC_000002.10:g.136307222G>C	NCBI36
NG_008104.2:g.26988C>G , LRG_338:g.26988C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.649C>G MANE Select	ENSP00000264162.2:p.Leu217Val
ENST00000264162.6:c.649C>G	ENSP00000264162.2:p.Leu217Val
NM_002299.2:c.649C>G , LRG_338t1:c.649C>G	NP_002290.2:p.Leu217Val
NM_002299.3:c.649C>G	NP_002290.2:p.Leu217Val
XM_017004088.2:c.649C>G	XP_016859577.1:p.Leu217Val
NM_002299.4:c.649C>G MANE Select	NP_002290.2:p.Leu217Val