Canonical Allele Identifier: CA56636375

Gene: LCT

Linked Data

• dbSNP Id: rs1004762888
• gnomAD v2: 2-136590555-A-G
• gnomAD v3: 2-135832985-A-G
• gnomAD v4: 2-135832985-A-G
• MyVariant Identifiers: chr2:g.136590555A>G (hg19) ; chr2:g.135832985A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135832985A>G , CM000664.2:g.135832985A>G	GRCh38
NC_000002.11:g.136590555A>G , CM000664.1:g.136590555A>G	GRCh37
NC_000002.10:g.136307025A>G	NCBI36
NG_008104.2:g.27185T>C , LRG_338:g.27185T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.720+126T>C MANE Select	ENSP00000264162.2:n.720+126T>C
ENST00000264162.6:c.720+126T>C	ENSP00000264162.2:n.720+126T>C
NM_002299.2:c.720+126T>C , LRG_338t1:c.720+126T>C	NP_002290.2:n.720+126T>C
NM_002299.3:c.720+126T>C	NP_002290.2:n.720+126T>C
XM_017004088.2:c.720+126T>C	XP_016859577.1:n.720+126T>C
NM_002299.4:c.720+126T>C MANE Select	NP_002290.2:n.720+126T>C