Canonical Allele Identifier: CA1420421

Gene: LEFTY2

Linked Data

• ClinVar Variation Id: 418283
• ClinVar RCV Id: RCV000483879 ; RCV002248698
• dbSNP Id: rs777139964
• ExAC: 1:226125212 G / T
• gnomAD v2: 1-226125212-G-T
• gnomAD v3: 1-225937512-G-T
• gnomAD v4: 1-225937512-G-T
• MyVariant Identifiers: chr1:g.226125212G>T (hg19) ; chr1:g.225937512G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225937512G>T , CM000663.2:g.225937512G>T	GRCh38
NC_000001.10:g.226125212G>T , CM000663.1:g.226125212G>T	GRCh37
NC_000001.9:g.224191835G>T	NCBI36
NG_008118.1:g.8709C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366820.10:c.1030C>A MANE Select	ENSP00000355785.5:p.Pro344Thr
ENST00000366820.9:c.1030C>A	ENSP00000355785.5:p.Pro344Thr
ENST00000420304.6:c.928C>A	ENSP00000388009.2:p.Pro310Thr
ENST00000616737.1:c.1030C>A	ENSP00000484300.1:p.Pro344Thr
NM_001172425.1:c.928C>A	NP_001165896.1:p.Pro310Thr
NM_003240.3:c.1030C>A	NP_003231.2:p.Pro344Thr
NM_001172425.2:c.928C>A	NP_001165896.1:p.Pro310Thr
NM_003240.4:c.1030C>A	NP_003231.2:p.Pro344Thr
NM_003240.5:c.1030C>A MANE Select	NP_003231.2:p.Pro344Thr
NM_001172425.3:c.928C>A	NP_001165896.1:p.Pro310Thr