Canonical Allele Identifier: CA56623340

Gene: LCT

Linked Data

• dbSNP Id: rs1025192775
• gnomAD v4: 2-135817368-G-C
• MyVariant Identifiers: chr2:g.136574938G>C (hg19) ; chr2:g.135817368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817368G>C , CM000664.2:g.135817368G>C	GRCh38
NC_000002.11:g.136574938G>C , CM000664.1:g.136574938G>C	GRCh37
NC_000002.10:g.136291408G>C	NCBI36
NG_008104.2:g.42802C>G , LRG_338:g.42802C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.1680C>G MANE Select	ENSP00000264162.2:p.Ile560Met
ENST00000264162.6:c.1680C>G	ENSP00000264162.2:p.Ile560Met
NM_002299.2:c.1680C>G , LRG_338t1:c.1680C>G	NP_002290.2:p.Ile560Met
NM_002299.3:c.1680C>G	NP_002290.2:p.Ile560Met
XM_017004088.2:c.1680C>G	XP_016859577.1:p.Ile560Met
NM_002299.4:c.1680C>G MANE Select	NP_002290.2:p.Ile560Met