Canonical Allele Identifier: CA10612139

Gene: LCT

Linked Data

• ClinVar Variation Id: 331158
• ClinVar RCV Id: RCV000336547 ; RCV000405959
• dbSNP Id: rs749324196
• gnomAD v2: 2-136545664-A-G
• gnomAD v3: 2-135788094-A-G
• gnomAD v4: 2-135788094-A-G
• MyVariant Identifiers: chr2:g.136545664A>G (hg19) ; chr2:g.135788094A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135788094A>G , CM000664.2:g.135788094A>G	GRCh38
NC_000002.11:g.136545664A>G , CM000664.1:g.136545664A>G	GRCh37
NC_000002.10:g.136262134A>G	NCBI36
NG_008104.2:g.72076T>C , LRG_338:g.72076T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.*230T>C MANE Select	ENSP00000264162.2:n.*230T>C
ENST00000264162.6:c.*230T>C	ENSP00000264162.2:n.*230T>C
NM_002299.2:c.*230T>C , LRG_338t1:c.*230T>C	NP_002290.2:n.*230T>C
NM_002299.3:c.*230T>C	NP_002290.2:n.*230T>C
NM_002299.4:c.*230T>C MANE Select	NP_002290.2:n.*230T>C