Canonical Allele Identifier: CA429086210
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs769944138
MyVariant Identifiers: chr2:g.136555670A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798100A>G , CM000664.2:g.135798100A>G GRCh38
NC_000002.11:g.136555670A>G , CM000664.1:g.136555670A>G GRCh37
NC_000002.10:g.136272140A>G NCBI36
NG_008104.2:g.62070T>C , LRG_338:g.62070T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4905T>C MANE Select ENSP00000264162.2:p.Asn1635=
ENST00000264162.6:c.4905T>C ENSP00000264162.2:p.Asn1635=
ENST00000452974.1:c.2998T>C ENSP00000391231.1:p.Trp1000Arg
NM_002299.2:c.4905T>C , LRG_338t1:c.4905T>C NP_002290.2:p.Asn1635=
NM_002299.3:c.4905T>C NP_002290.2:p.Asn1635=
XM_017004088.2:c.4905T>C XP_016859577.1:p.Asn1635=
NM_002299.4:c.4905T>C MANE Select NP_002290.2:p.Asn1635=