Canonical Allele Identifier: CA429203001

Gene: LCT

Linked Data

• dbSNP Id: rs1477988439
• gnomAD v2: 2-136562391-C-T
• MyVariant Identifiers: chr2:g.136562391C>T (hg19) ; chr2:g.135804821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135804821C>T , CM000664.2:g.135804821C>T	GRCh38
NC_000002.11:g.136562391C>T , CM000664.1:g.136562391C>T	GRCh37
NC_000002.10:g.136278861C>T	NCBI36
NG_008104.2:g.55349G>A , LRG_338:g.55349G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.4410G>A MANE Select	ENSP00000264162.2:p.Leu1470=
ENST00000264162.6:c.4410G>A	ENSP00000264162.2:p.Leu1470=
ENST00000452974.1:c.2706G>A	ENSP00000391231.1:p.Leu902=
NM_002299.2:c.4410G>A , LRG_338t1:c.4410G>A	NP_002290.2:p.Leu1470=
NM_002299.3:c.4410G>A	NP_002290.2:p.Leu1470=
XM_017004088.2:c.4410G>A	XP_016859577.1:p.Leu1470=
NM_002299.4:c.4410G>A MANE Select	NP_002290.2:p.Leu1470=