Canonical Allele Identifier: CA348592958

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136558276A>C (hg19) ; chr2:g.135800706A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135800706A>C , CM000664.2:g.135800706A>C	GRCh38
NC_000002.11:g.136558276A>C , CM000664.1:g.136558276A>C	GRCh37
NC_000002.10:g.136274746A>C	NCBI36
NG_008104.2:g.59464T>G , LRG_338:g.59464T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4767T>G MANE Select	ENSP00000264162.2:p.Ser1589Arg
ENST00000264162.6:c.4767T>G	ENSP00000264162.2:p.Ser1589Arg
ENST00000452974.1:c.2960-2568T>G	ENSP00000391231.1:n.2960-2568T>G
NM_002299.2:c.4767T>G , LRG_338t1:c.4767T>G	NP_002290.2:p.Ser1589Arg
NM_002299.3:c.4767T>G	NP_002290.2:p.Ser1589Arg
XM_017004088.2:c.4767T>G	XP_016859577.1:p.Ser1589Arg
NM_002299.4:c.4767T>G MANE Select	NP_002290.2:p.Ser1589Arg