Canonical Allele Identifier: CA429086230

Gene: LCT

Linked Data

• dbSNP Id: rs752646739
• gnomAD v2: 2-136555688-T-A
• gnomAD v4: 2-135798118-T-A
• MyVariant Identifiers: chr2:g.136555688T>A (hg19) ; chr2:g.135798118T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135798118T>A , CM000664.2:g.135798118T>A	GRCh38
NC_000002.11:g.136555688T>A , CM000664.1:g.136555688T>A	GRCh37
NC_000002.10:g.136272158T>A	NCBI36
NG_008104.2:g.62052A>T , LRG_338:g.62052A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4887A>T MANE Select	ENSP00000264162.2:p.Ala1629=
ENST00000264162.6:c.4887A>T	ENSP00000264162.2:p.Ala1629=
ENST00000452974.1:c.2980A>T	ENSP00000391231.1:p.Thr994Ser
NM_002299.2:c.4887A>T , LRG_338t1:c.4887A>T	NP_002290.2:p.Ala1629=
NM_002299.3:c.4887A>T	NP_002290.2:p.Ala1629=
XM_017004088.2:c.4887A>T	XP_016859577.1:p.Ala1629=
NM_002299.4:c.4887A>T MANE Select	NP_002290.2:p.Ala1629=