Canonical Allele Identifier: CA1887607

Gene: LCT

Linked Data

• dbSNP Id: rs751085253
• ExAC: 2:136547212 T / C
• gnomAD v2: 2-136547212-T-C
• gnomAD v4: 2-135789642-T-C
• MyVariant Identifiers: chr2:g.136547212T>C (hg19) ; chr2:g.135789642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135789642T>C , CM000664.2:g.135789642T>C	GRCh38
NC_000002.11:g.136547212T>C , CM000664.1:g.136547212T>C	GRCh37
NC_000002.10:g.136263682T>C	NCBI36
NG_008104.2:g.70528A>G , LRG_338:g.70528A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.5492A>G MANE Select	ENSP00000264162.2:p.Tyr1831Cys
ENST00000264162.6:c.5492A>G	ENSP00000264162.2:p.Tyr1831Cys
NM_002299.2:c.5492A>G , LRG_338t1:c.5492A>G	NP_002290.2:p.Tyr1831Cys
NM_002299.3:c.5492A>G	NP_002290.2:p.Tyr1831Cys
NM_002299.4:c.5492A>G MANE Select	NP_002290.2:p.Tyr1831Cys