Canonical Allele Identifier: CA1887771

Gene: LCT

Linked Data

• dbSNP Id: rs777245176
• ExAC: 2:136558243 A / G
• gnomAD v2: 2-136558243-A-G
• MyVariant Identifiers: chr2:g.136558243A>G (hg19) ; chr2:g.135800673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135800673A>G , CM000664.2:g.135800673A>G	GRCh38
NC_000002.11:g.136558243A>G , CM000664.1:g.136558243A>G	GRCh37
NC_000002.10:g.136274713A>G	NCBI36
NG_008104.2:g.59497T>C , LRG_338:g.59497T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4800T>C MANE Select	ENSP00000264162.2:p.Ser1600=
ENST00000264162.6:c.4800T>C	ENSP00000264162.2:p.Ser1600=
ENST00000452974.1:c.2960-2535T>C	ENSP00000391231.1:n.2960-2535T>C
NM_002299.2:c.4800T>C , LRG_338t1:c.4800T>C	NP_002290.2:p.Ser1600=
NM_002299.3:c.4800T>C	NP_002290.2:p.Ser1600=
XM_017004088.2:c.4800T>C	XP_016859577.1:p.Ser1600=
NM_002299.4:c.4800T>C MANE Select	NP_002290.2:p.Ser1600=