Canonical Allele Identifier: CA9324761
Gene: TM6SF2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.19268740C>T
GRCh37 chr19:g.19379549C>T
Revel Score:
ENST00000389363 (MANE Select) 0.075
ENST00000269990 0.075
gnomAD v2:
19:19379549 C / T
gnomAD v3:
19:19268740 C / T
gnomAD v4:
chr19-19268740-C-T
Joint Max Group AF 0.08901678 (SAS)
Genomes Max Group AF 0.08935899 (SAS)
Exomes Max Group AF 0.08863532 (SAS)
dbSNP:
58542926
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.19268740C>T , CM000681.2:g.19268740C>T GRCh38
NC_000019.9:g.19379549C>T , CM000681.1:g.19379549C>T GRCh37
NC_000019.8:g.19240549C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000389363.5:c.499G>A MANE Select ENSP00000374014.2:p.Glu167Lys
ENST00000389363.4:c.499G>A ENSP00000374014.2:p.Glu167Lys
ENST00000431465.2:n.1006-653G>A
ENST00000586107.1:n.473G>A
ENST00000591001.5:n.944-653G>A
NM_001001524.2:c.499G>A NP_001001524.2:p.Glu167Lys
NM_001001524.3:c.499G>A MANE Select NP_001001524.2:p.Glu167Lys
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