Canonical Allele Identifier: CA348597369
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136564722C>T (hg19) chr2:g.135807152C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135807152C>T , CM000664.2:g.135807152C>T GRCh38
NC_000002.11:g.136564722C>T , CM000664.1:g.136564722C>T GRCh37
NC_000002.10:g.136281192C>T NCBI36
NG_008104.2:g.53018G>A , LRG_338:g.53018G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4149G>A MANE Select ENSP00000264162.2:p.Trp1383Ter
ENST00000264162.6:c.4149G>A ENSP00000264162.2:p.Trp1383Ter
ENST00000452974.1:c.2445G>A ENSP00000391231.1:p.Trp815Ter
NM_002299.2:c.4149G>A , LRG_338t1:c.4149G>A NP_002290.2:p.Trp1383Ter
NM_002299.3:c.4149G>A NP_002290.2:p.Trp1383Ter
XM_017004088.2:c.4149G>A XP_016859577.1:p.Trp1383Ter
NM_002299.4:c.4149G>A MANE Select NP_002290.2:p.Trp1383Ter
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