Canonical Allele Identifier: CA348597379

Gene: LCT

Linked Data

• gnomAD v4: 2-135807154-A-G
• MyVariant Identifiers: chr2:g.136564724A>G (hg19) ; chr2:g.135807154A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135807154A>G , CM000664.2:g.135807154A>G	GRCh38
NC_000002.11:g.136564724A>G , CM000664.1:g.136564724A>G	GRCh37
NC_000002.10:g.136281194A>G	NCBI36
NG_008104.2:g.53016T>C , LRG_338:g.53016T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4147T>C MANE Select	ENSP00000264162.2:p.Trp1383Arg
ENST00000264162.6:c.4147T>C	ENSP00000264162.2:p.Trp1383Arg
ENST00000452974.1:c.2443T>C	ENSP00000391231.1:p.Trp815Arg
NM_002299.2:c.4147T>C , LRG_338t1:c.4147T>C	NP_002290.2:p.Trp1383Arg
NM_002299.3:c.4147T>C	NP_002290.2:p.Trp1383Arg
XM_017004088.2:c.4147T>C	XP_016859577.1:p.Trp1383Arg
NM_002299.4:c.4147T>C MANE Select	NP_002290.2:p.Trp1383Arg