Canonical Allele Identifier: CA1562511
Gene: DRC1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.26455142C>G
GRCh38 chr2:g.26455142_26455150delinsGCCAGAGGG
GRCh37 chr2:g.26678010C>G
GRCh37 chr2:g.26678010_26678018delinsGCCAGAGGG
Revel Score:
ENST00000288710 (MANE Select) 0.040
gnomAD v2:
2:26678010 C / G
gnomAD v3:
2:26455142 C / G
gnomAD v4:
chr2-26455142-C-G
Joint Max Group AF 0.00045587 (NFE)
Genomes Max Group AF 0.00027995 (NFE)
Exomes Max Group AF 0.00046037 (NFE)
ClinVar RCV:
RCV000629310
RCV003117438
ClinVar Variation:
525259
dbSNP:
201260214
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26455142C>G , CM000664.2:g.26455142C>G GRCh38
NC_000002.11:g.26678010C>G , CM000664.1:g.26678010C>G GRCh37
NC_000002.10:g.26531514C>G NCBI36
NG_042824.1:g.58231C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000288710.7:c.2075C>G MANE Select ENSP00000288710.2:p.Thr692Ser
ENST00000649059.1:c.1921C>G
ENST00000288710.6:c.2075C>G ENSP00000288710.2:p.Thr692Ser
NM_145038.3:c.2075C>G NP_659475.2:p.Thr692Ser
NM_145038.4:c.2075C>G NP_659475.2:p.Thr692Ser
XM_005264637.3:c.1457C>G XP_005264694.1:p.Thr486Ser
XM_005264638.3:c.1055C>G XP_005264695.1:p.Thr352Ser
XM_017005271.1:c.1055C>G XP_016860760.1:p.Thr352Ser
XM_024453218.1:c.1055C>G XP_024308986.1:p.Thr352Ser
NM_145038.5:c.2075C>G MANE Select NP_659475.2:p.Thr692Ser
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