Canonical Allele Identifier: CA1888559

Gene: LCT

Linked Data

• dbSNP Id: rs751687218
• ExAC: 2:136590646 C / T
• gnomAD v2: 2-136590646-C-T
• gnomAD v4: 2-135833076-C-T
• MyVariant Identifiers: chr2:g.136590646C>T (hg19) ; chr2:g.135833076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135833076C>T , CM000664.2:g.135833076C>T	GRCh38
NC_000002.11:g.136590646C>T , CM000664.1:g.136590646C>T	GRCh37
NC_000002.10:g.136307116C>T	NCBI36
NG_008104.2:g.27094G>A , LRG_338:g.27094G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.720+35G>A MANE Select	ENSP00000264162.2:n.720+35G>A
ENST00000264162.6:c.720+35G>A	ENSP00000264162.2:n.720+35G>A
NM_002299.2:c.720+35G>A , LRG_338t1:c.720+35G>A	NP_002290.2:n.720+35G>A
NM_002299.3:c.720+35G>A	NP_002290.2:n.720+35G>A
XM_017004088.2:c.720+35G>A	XP_016859577.1:n.720+35G>A
NM_002299.4:c.720+35G>A MANE Select	NP_002290.2:n.720+35G>A