Canonical Allele Identifier: CA348586317

Gene: LCT

Linked Data

• MyVariant Identifiers: chr2:g.136547225A>G (hg19) ; chr2:g.135789655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135789655A>G , CM000664.2:g.135789655A>G	GRCh38
NC_000002.11:g.136547225A>G , CM000664.1:g.136547225A>G	GRCh37
NC_000002.10:g.136263695A>G	NCBI36
NG_008104.2:g.70515T>C , LRG_338:g.70515T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.5479T>C MANE Select	ENSP00000264162.2:p.Ser1827Pro
ENST00000264162.6:c.5479T>C	ENSP00000264162.2:p.Ser1827Pro
NM_002299.2:c.5479T>C , LRG_338t1:c.5479T>C	NP_002290.2:p.Ser1827Pro
NM_002299.3:c.5479T>C	NP_002290.2:p.Ser1827Pro
NM_002299.4:c.5479T>C MANE Select	NP_002290.2:p.Ser1827Pro