Canonical Allele Identifier: CA348608850

Gene: LCT

Linked Data

• gnomAD v4: 2-135833178-G-T
• MyVariant Identifiers: chr2:g.136590748G>T (hg19) ; chr2:g.135833178G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135833178G>T , CM000664.2:g.135833178G>T	GRCh38
NC_000002.11:g.136590748G>T , CM000664.1:g.136590748G>T	GRCh37
NC_000002.10:g.136307218G>T	NCBI36
NG_008104.2:g.26992C>A , LRG_338:g.26992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.653C>A MANE Select	ENSP00000264162.2:p.Ser218Tyr
ENST00000264162.6:c.653C>A	ENSP00000264162.2:p.Ser218Tyr
NM_002299.2:c.653C>A , LRG_338t1:c.653C>A	NP_002290.2:p.Ser218Tyr
NM_002299.3:c.653C>A	NP_002290.2:p.Ser218Tyr
XM_017004088.2:c.653C>A	XP_016859577.1:p.Ser218Tyr
NM_002299.4:c.653C>A MANE Select	NP_002290.2:p.Ser218Tyr