Canonical Allele Identifier: CA56623168

Gene: LCT

Linked Data

• dbSNP Id: rs1045272455
• gnomAD v3: 2-135817019-A-AT
• gnomAD v4: 2-135817019-A-AT
• MyVariant Identifiers: chr2:g.136574589_136574590insT (hg19) ; chr2:g.135817019_135817020insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817019_135817020insT , CM000664.2:g.135817019_135817020insT	GRCh38
NC_000002.11:g.136574589_136574590insT , CM000664.1:g.136574589_136574590insT	GRCh37
NC_000002.10:g.136291059_136291060insT	NCBI36
NG_008104.2:g.43150_43151insA , LRG_338:g.43150_43151insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.1707+321_1707+322insA MANE Select	ENSP00000264162.2:n.1707+321_1707+322insA
ENST00000264162.6:c.1707+321_1707+322insA	ENSP00000264162.2:n.1707+321_1707+322insA
NM_002299.2:c.1707+321_1707+322insA , LRG_338t1:c.1707+321_1707+322insA	NP_002290.2:n.1707+321_1707+322insA
NM_002299.3:c.1707+321_1707+322insA	NP_002290.2:n.1707+321_1707+322insA
XM_017004088.2:c.1707+321_1707+322insA	XP_016859577.1:n.1707+321_1707+322insA
NM_002299.4:c.1707+321_1707+322insA MANE Select	NP_002290.2:n.1707+321_1707+322insA