Canonical Allele Identifier: CA348592400

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136558199T>A (hg19) ; chr2:g.135800629T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135800629T>A , CM000664.2:g.135800629T>A	GRCh38
NC_000002.11:g.136558199T>A , CM000664.1:g.136558199T>A	GRCh37
NC_000002.10:g.136274669T>A	NCBI36
NG_008104.2:g.59541A>T , LRG_338:g.59541A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4844A>T MANE Select	ENSP00000264162.2:p.Glu1615Val
ENST00000264162.6:c.4844A>T	ENSP00000264162.2:p.Glu1615Val
ENST00000452974.1:c.2960-2491A>T	ENSP00000391231.1:n.2960-2491A>T
NM_002299.2:c.4844A>T , LRG_338t1:c.4844A>T	NP_002290.2:p.Glu1615Val
NM_002299.3:c.4844A>T	NP_002290.2:p.Glu1615Val
XM_017004088.2:c.4844A>T	XP_016859577.1:p.Glu1615Val
NM_002299.4:c.4844A>T MANE Select	NP_002290.2:p.Glu1615Val