Canonical Allele Identifier: CA56623342

Gene: LCT

Linked Data

• ClinVar Variation Id: 1525159
• ClinVar RCV Id: RCV002050284 ; RCV004044876
• dbSNP Id: rs994457775
• gnomAD v2: 2-136574958-C-T
• gnomAD v4: 2-135817388-C-T
• MyVariant Identifiers: chr2:g.136574958C>T (hg19) ; chr2:g.135817388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817388C>T , CM000664.2:g.135817388C>T	GRCh38
NC_000002.11:g.136574958C>T , CM000664.1:g.136574958C>T	GRCh37
NC_000002.10:g.136291428C>T	NCBI36
NG_008104.2:g.42782G>A , LRG_338:g.42782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.1660G>A MANE Select	ENSP00000264162.2:p.Gly554Ser
ENST00000264162.6:c.1660G>A	ENSP00000264162.2:p.Gly554Ser
NM_002299.2:c.1660G>A , LRG_338t1:c.1660G>A	NP_002290.2:p.Gly554Ser
NM_002299.3:c.1660G>A	NP_002290.2:p.Gly554Ser
XM_017004088.2:c.1660G>A	XP_016859577.1:p.Gly554Ser
NM_002299.4:c.1660G>A MANE Select	NP_002290.2:p.Gly554Ser