Canonical Allele Identifier: CA348608842

Gene: LCT

Linked Data

• ClinVar Variation Id: 2480196
• ClinVar RCV Id: RCV003209652
• MyVariant Identifiers: chr2:g.136590743C>T (hg19) ; chr2:g.135833173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135833173C>T , CM000664.2:g.135833173C>T	GRCh38
NC_000002.11:g.136590743C>T , CM000664.1:g.136590743C>T	GRCh37
NC_000002.10:g.136307213C>T	NCBI36
NG_008104.2:g.26997G>A , LRG_338:g.26997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.658G>A MANE Select	ENSP00000264162.2:p.Val220Ile
ENST00000264162.6:c.658G>A	ENSP00000264162.2:p.Val220Ile
NM_002299.2:c.658G>A , LRG_338t1:c.658G>A	NP_002290.2:p.Val220Ile
NM_002299.3:c.658G>A	NP_002290.2:p.Val220Ile
XM_017004088.2:c.658G>A	XP_016859577.1:p.Val220Ile
NM_002299.4:c.658G>A MANE Select	NP_002290.2:p.Val220Ile