Canonical Allele Identifier: CA1888589
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs3754688
ExAC: 2:136590795 C / G
gnomAD v2: 2-136590795-C-G
gnomAD v3: 2-135833225-C-G
gnomAD v4: 2-135833225-C-G
MyVariant Identifiers: chr2:g.136590795C>G (hg19) chr2:g.135833225C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135833225C>G , CM000664.2:g.135833225C>G GRCh38
NC_000002.11:g.136590795C>G , CM000664.1:g.136590795C>G GRCh37
NC_000002.10:g.136307265C>G NCBI36
NG_008104.2:g.26945G>C , LRG_338:g.26945G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.641-35G>C MANE Select ENSP00000264162.2:n.641-35G>C
ENST00000264162.6:c.641-35G>C ENSP00000264162.2:n.641-35G>C
NM_002299.2:c.641-35G>C , LRG_338t1:c.641-35G>C NP_002290.2:n.641-35G>C
NM_002299.3:c.641-35G>C NP_002290.2:n.641-35G>C
XM_017004088.2:c.641-35G>C XP_016859577.1:n.641-35G>C
NM_002299.4:c.641-35G>C MANE Select NP_002290.2:n.641-35G>C
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