Canonical Allele Identifier: CA348592538

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136558217G>A (hg19) ; chr2:g.135800647G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135800647G>A , CM000664.2:g.135800647G>A	GRCh38
NC_000002.11:g.136558217G>A , CM000664.1:g.136558217G>A	GRCh37
NC_000002.10:g.136274687G>A	NCBI36
NG_008104.2:g.59523C>T , LRG_338:g.59523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4826C>T MANE Select	ENSP00000264162.2:p.Ser1609Phe
ENST00000264162.6:c.4826C>T	ENSP00000264162.2:p.Ser1609Phe
ENST00000452974.1:c.2960-2509C>T	ENSP00000391231.1:n.2960-2509C>T
NM_002299.2:c.4826C>T , LRG_338t1:c.4826C>T	NP_002290.2:p.Ser1609Phe
NM_002299.3:c.4826C>T	NP_002290.2:p.Ser1609Phe
XM_017004088.2:c.4826C>T	XP_016859577.1:p.Ser1609Phe
NM_002299.4:c.4826C>T MANE Select	NP_002290.2:p.Ser1609Phe