Canonical Allele Identifier: CA13942893
Gene: LIN52 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.74085267G>C
GRCh37 chr14:g.74551970G>C
gnomAD v2:
14:74551970 G / C
gnomAD v3:
14:74085267 G / C
gnomAD v4:
chr14-74085267-G-C
Joint Max Group AF 0.81440791 (EAS)
Genomes Max Group AF 0.79534003 (EAS)
Exomes Max Group AF 0.81534985 (EAS)
dbSNP:
2239557
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74085267G>C , CM000676.2:g.74085267G>C GRCh38
NC_000014.8:g.74551970G>C , CM000676.1:g.74551970G>C GRCh37
NC_000014.7:g.73621723G>C NCBI36
NG_012257.2:g.4227C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555028.7:c.19+274G>C MANE Select ENSP00000451812.2:n.19+274G>C
ENST00000554938.2:c.19+274G>C ENSP00000452513.2:n.19+274G>C
ENST00000555028.6:c.19+274G>C ENSP00000451812.2:n.19+274G>C
ENST00000674221.1:c.31+274G>C ENSP00000501511.1:n.31+274G>C
ENST00000553404.5:n.308G>C
ENST00000554076.5:n.31+274G>C
ENST00000554938.1:c.38+274G>C
ENST00000555028.5:c.31+274G>C ENSP00000451812.1:n.31+274G>C
NM_001024674.2:c.31+274G>C NP_001019845.1:n.31+274G>C
XM_011537320.1:c.127+274G>C XP_011535622.1:n.127+274G>C
XM_011537321.1:c.127+274G>C XP_011535623.1:n.127+274G>C
XM_011537322.1:c.127+274G>C XP_011535624.1:n.127+274G>C
XM_011537320.3:c.127+274G>C XP_011535622.1:n.127+274G>C
XM_011537321.3:c.127+274G>C XP_011535623.1:n.127+274G>C
XM_011537322.2:c.31+274G>C XP_011535624.2:n.31+274G>C
XM_017021763.2:c.31+274G>C XP_016877252.1:n.31+274G>C
XM_017021764.1:c.31+274G>C XP_016877253.1:n.31+274G>C
NM_001024674.3:c.19+274G>C MANE Select NP_001019845.2:n.19+274G>C
NM_001372005.1:c.19+274G>C NP_001358934.1:n.19+274G>C
NM_001372006.1:c.19+274G>C NP_001358935.1:n.19+274G>C
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