Canonical Allele Identifier: CA1888352

Gene: LCT

Linked Data

• dbSNP Id: rs745765039
• ExAC: 2:136574861 C / G
• gnomAD v2: 2-136574861-C-G
• gnomAD v4: 2-135817291-C-G
• MyVariant Identifiers: chr2:g.136574861C>G (hg19) ; chr2:g.135817291C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817291C>G , CM000664.2:g.135817291C>G	GRCh38
NC_000002.11:g.136574861C>G , CM000664.1:g.136574861C>G	GRCh37
NC_000002.10:g.136291331C>G	NCBI36
NG_008104.2:g.42879G>C , LRG_338:g.42879G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.1707+50G>C MANE Select	ENSP00000264162.2:n.1707+50G>C
ENST00000264162.6:c.1707+50G>C	ENSP00000264162.2:n.1707+50G>C
NM_002299.2:c.1707+50G>C , LRG_338t1:c.1707+50G>C	NP_002290.2:n.1707+50G>C
NM_002299.3:c.1707+50G>C	NP_002290.2:n.1707+50G>C
XM_017004088.2:c.1707+50G>C	XP_016859577.1:n.1707+50G>C
NM_002299.4:c.1707+50G>C MANE Select	NP_002290.2:n.1707+50G>C