Canonical Allele Identifier: CA429086165

Gene: LCT

Linked Data

• dbSNP Id: rs759920127
• gnomAD v2: 2-136555628-C-T
• gnomAD v4: 2-135798058-C-T
• MyVariant Identifiers: chr2:g.136555628C>T (hg19) ; chr2:g.135798058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135798058C>T , CM000664.2:g.135798058C>T	GRCh38
NC_000002.11:g.136555628C>T , CM000664.1:g.136555628C>T	GRCh37
NC_000002.10:g.136272098C>T	NCBI36
NG_008104.2:g.62112G>A , LRG_338:g.62112G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.4947G>A MANE Select	ENSP00000264162.2:p.Arg1649=
ENST00000264162.6:c.4947G>A	ENSP00000264162.2:p.Arg1649=
ENST00000452974.1:c.3040G>A	ENSP00000391231.1:n.3040G>A
NM_002299.2:c.4947G>A , LRG_338t1:c.4947G>A	NP_002290.2:p.Arg1649=
NM_002299.3:c.4947G>A	NP_002290.2:p.Arg1649=
XM_017004088.2:c.4947G>A	XP_016859577.1:p.Arg1649=
NM_002299.4:c.4947G>A MANE Select	NP_002290.2:p.Arg1649=