Canonical Allele Identifier: CA348605782

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136575007C>T (hg19) ; chr2:g.135817437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817437C>T , CM000664.2:g.135817437C>T	GRCh38
NC_000002.11:g.136575007C>T , CM000664.1:g.136575007C>T	GRCh37
NC_000002.10:g.136291477C>T	NCBI36
NG_008104.2:g.42733G>A , LRG_338:g.42733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.1611G>A MANE Select	ENSP00000264162.2:p.Trp537Ter
ENST00000264162.6:c.1611G>A	ENSP00000264162.2:p.Trp537Ter
NM_002299.2:c.1611G>A , LRG_338t1:c.1611G>A	NP_002290.2:p.Trp537Ter
NM_002299.3:c.1611G>A	NP_002290.2:p.Trp537Ter
XM_017004088.2:c.1611G>A	XP_016859577.1:p.Trp537Ter
NM_002299.4:c.1611G>A MANE Select	NP_002290.2:p.Trp537Ter