Canonical Allele Identifier: CA348591012
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1365427482
gnomAD v2: 2-136555689-G-A
gnomAD v3: 2-135798119-G-A
gnomAD v4: 2-135798119-G-A
MyVariant Identifiers: chr2:g.136555689G>A (hg19) chr2:g.135798119G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798119G>A , CM000664.2:g.135798119G>A GRCh38
NC_000002.11:g.136555689G>A , CM000664.1:g.136555689G>A GRCh37
NC_000002.10:g.136272159G>A NCBI36
NG_008104.2:g.62051C>T , LRG_338:g.62051C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4886C>T MANE Select ENSP00000264162.2:p.Ala1629Val
ENST00000264162.6:c.4886C>T ENSP00000264162.2:p.Ala1629Val
ENST00000452974.1:c.2979C>T ENSP00000391231.1:p.Cys993=
NM_002299.2:c.4886C>T , LRG_338t1:c.4886C>T NP_002290.2:p.Ala1629Val
NM_002299.3:c.4886C>T NP_002290.2:p.Ala1629Val
XM_017004088.2:c.4886C>T XP_016859577.1:p.Ala1629Val
NM_002299.4:c.4886C>T MANE Select NP_002290.2:p.Ala1629Val
Search 100 bp 5'
Search 100 bp 3'