Canonical Allele Identifier: CA348586022

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136547177G>C (hg19) ; chr2:g.135789607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135789607G>C , CM000664.2:g.135789607G>C	GRCh38
NC_000002.11:g.136547177G>C , CM000664.1:g.136547177G>C	GRCh37
NC_000002.10:g.136263647G>C	NCBI36
NG_008104.2:g.70563C>G , LRG_338:g.70563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.5527C>G MANE Select	ENSP00000264162.2:p.Pro1843Ala
ENST00000264162.6:c.5527C>G	ENSP00000264162.2:p.Pro1843Ala
NM_002299.2:c.5527C>G , LRG_338t1:c.5527C>G	NP_002290.2:p.Pro1843Ala
NM_002299.3:c.5527C>G	NP_002290.2:p.Pro1843Ala
NM_002299.4:c.5527C>G MANE Select	NP_002290.2:p.Pro1843Ala