Canonical Allele Identifier: CA10998387
Gene: RSAD2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.6892487T>C
GRCh37 chr2:g.7032618T>C
gnomAD v2:
2:7032618 T / C
gnomAD v3:
2:6892487 T / C
gnomAD v4:
chr2-6892487-T-C
Joint Max Group AF 0.73280545 (EAS)
Genomes Max Group AF 0.73280545 (EAS)
dbSNP:
16865717
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.6892487T>C , CM000664.2:g.6892487T>C GRCh38
NC_000002.11:g.7032618T>C , CM000664.1:g.7032618T>C GRCh37
NC_000002.10:g.6950069T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382040.4:c.889-1184T>C MANE Select ENSP00000371471.3:n.889-1184T>C
ENST00000442639.6:c.685-1184T>C ENSP00000406427.2:n.685-1184T>C
ENST00000679373.1:c.*688-1184T>C ENSP00000505885.1:n.*688-1184T>C
ENST00000679863.1:c.*1933-1184T>C ENSP00000505443.1:n.*1933-1184T>C
ENST00000680320.1:c.523-1184T>C ENSP00000505832.1:n.523-1184T>C
ENST00000680607.1:c.889-1184T>C ENSP00000506390.1:n.889-1184T>C
ENST00000382040.3:c.889-1184T>C ENSP00000371471.3:n.889-1184T>C
NM_080657.4:c.889-1184T>C NP_542388.2:n.889-1184T>C
XM_011510414.1:c.889-1184T>C XP_011508716.1:n.889-1184T>C
XM_011510415.1:c.685-1184T>C XP_011508717.1:n.685-1184T>C
XM_011510415.2:c.685-1184T>C XP_011508717.1:n.685-1184T>C
NM_080657.5:c.889-1184T>C MANE Select NP_542388.2:n.889-1184T>C
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