Canonical Allele Identifier: CA348595784

Gene: LCT

Linked Data

• gnomAD v4: 2-135804816-T-C
• MyVariant Identifiers: chr2:g.136562386T>C (hg19) ; chr2:g.135804816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135804816T>C , CM000664.2:g.135804816T>C	GRCh38
NC_000002.11:g.136562386T>C , CM000664.1:g.136562386T>C	GRCh37
NC_000002.10:g.136278856T>C	NCBI36
NG_008104.2:g.55354A>G , LRG_338:g.55354A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.4415A>G MANE Select	ENSP00000264162.2:p.Tyr1472Cys
ENST00000264162.6:c.4415A>G	ENSP00000264162.2:p.Tyr1472Cys
ENST00000452974.1:c.2711A>G	ENSP00000391231.1:p.Tyr904Cys
NM_002299.2:c.4415A>G , LRG_338t1:c.4415A>G	NP_002290.2:p.Tyr1472Cys
NM_002299.3:c.4415A>G	NP_002290.2:p.Tyr1472Cys
XM_017004088.2:c.4415A>G	XP_016859577.1:p.Tyr1472Cys
NM_002299.4:c.4415A>G MANE Select	NP_002290.2:p.Tyr1472Cys