Canonical Allele Identifier: CA348586031

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136547178G>T (hg19) ; chr2:g.135789608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135789608G>T , CM000664.2:g.135789608G>T	GRCh38
NC_000002.11:g.136547178G>T , CM000664.1:g.136547178G>T	GRCh37
NC_000002.10:g.136263648G>T	NCBI36
NG_008104.2:g.70562C>A , LRG_338:g.70562C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.5526C>A MANE Select	ENSP00000264162.2:p.Asp1842Glu
ENST00000264162.6:c.5526C>A	ENSP00000264162.2:p.Asp1842Glu
NM_002299.2:c.5526C>A , LRG_338t1:c.5526C>A	NP_002290.2:p.Asp1842Glu
NM_002299.3:c.5526C>A	NP_002290.2:p.Asp1842Glu
NM_002299.4:c.5526C>A MANE Select	NP_002290.2:p.Asp1842Glu