Canonical Allele Identifier: CA56609590

Gene: LCT

Linked Data

• dbSNP Id: rs182858587
• gnomAD v2: 2-136562309-C-A
• gnomAD v3: 2-135804739-C-A
• gnomAD v4: 2-135804739-C-A
• MyVariant Identifiers: chr2:g.136562309C>A (hg19) ; chr2:g.135804739C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135804739C>A , CM000664.2:g.135804739C>A	GRCh38
NC_000002.11:g.136562309C>A , CM000664.1:g.136562309C>A	GRCh37
NC_000002.10:g.136278779C>A	NCBI36
NG_008104.2:g.55431G>T , LRG_338:g.55431G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.4464+28G>T MANE Select	ENSP00000264162.2:n.4464+28G>T
ENST00000264162.6:c.4464+28G>T	ENSP00000264162.2:n.4464+28G>T
ENST00000452974.1:c.2760+28G>T	ENSP00000391231.1:n.2760+28G>T
NM_002299.2:c.4464+28G>T , LRG_338t1:c.4464+28G>T	NP_002290.2:n.4464+28G>T
NM_002299.3:c.4464+28G>T	NP_002290.2:n.4464+28G>T
XM_017004088.2:c.4464+28G>T	XP_016859577.1:n.4464+28G>T
NM_002299.4:c.4464+28G>T MANE Select	NP_002290.2:n.4464+28G>T