Canonical Allele Identifier: CA1888560

Gene: LCT

Linked Data

• dbSNP Id: rs755136672
• ExAC: 2:136590659 T / A
• gnomAD v2: 2-136590659-T-A
• gnomAD v3: 2-135833089-T-A
• gnomAD v4: 2-135833089-T-A
• MyVariant Identifiers: chr2:g.136590659T>A (hg19) ; chr2:g.135833089T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135833089T>A , CM000664.2:g.135833089T>A	GRCh38
NC_000002.11:g.136590659T>A , CM000664.1:g.136590659T>A	GRCh37
NC_000002.10:g.136307129T>A	NCBI36
NG_008104.2:g.27081A>T , LRG_338:g.27081A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.720+22A>T MANE Select	ENSP00000264162.2:n.720+22A>T
ENST00000264162.6:c.720+22A>T	ENSP00000264162.2:n.720+22A>T
NM_002299.2:c.720+22A>T , LRG_338t1:c.720+22A>T	NP_002290.2:n.720+22A>T
NM_002299.3:c.720+22A>T	NP_002290.2:n.720+22A>T
XM_017004088.2:c.720+22A>T	XP_016859577.1:n.720+22A>T
NM_002299.4:c.720+22A>T MANE Select	NP_002290.2:n.720+22A>T