Canonical Allele Identifier: CA348605831

Gene: LCT

Linked Data

• dbSNP Id: rs2077789209
• gnomAD v4: 2-135817459-A-G
• MyVariant Identifiers: chr2:g.136575029A>G (hg19) ; chr2:g.135817459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817459A>G , CM000664.2:g.135817459A>G	GRCh38
NC_000002.11:g.136575029A>G , CM000664.1:g.136575029A>G	GRCh37
NC_000002.10:g.136291499A>G	NCBI36
NG_008104.2:g.42711T>C , LRG_338:g.42711T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.1589T>C MANE Select	ENSP00000264162.2:p.Phe530Ser
ENST00000264162.6:c.1589T>C	ENSP00000264162.2:p.Phe530Ser
NM_002299.2:c.1589T>C , LRG_338t1:c.1589T>C	NP_002290.2:p.Phe530Ser
NM_002299.3:c.1589T>C	NP_002290.2:p.Phe530Ser
XM_017004088.2:c.1589T>C	XP_016859577.1:p.Phe530Ser
NM_002299.4:c.1589T>C MANE Select	NP_002290.2:p.Phe530Ser