Linked Data
ClinVar Variation Id:
846419
ClinVar RCV Id:
RCV001049718
dbSNP Id:
rs1422307721
gnomAD v3:
2-166198796-G-GCAT
gnomAD v4:
2-166198796-G-GCAT
MyVariant Identifiers:
chr2:g.167055306_167055307insCAT (hg19)
chr2:g.166198796_166198797insCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166198798_166198800dup , CM000664.2:g.166198798_166198800dup | GRCh38 |
| NC_000002.11:g.167055308_167055310dup , CM000664.1:g.167055308_167055310dup | GRCh37 |
| NC_000002.10:g.166763554_166763556dup | NCBI36 |
| NG_012798.1:g.182189_182191dup , LRG_369:g.182189_182191dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.5840_5842dup (SCN9A) | ENSP00000304748.7:p.Asp1947_Ala1948insAsp | |
| ENST00000409435.6:c.5840_5842dup (SCN9A) | ENSP00000386330.2:p.Asp1947_Ala1948insAsp | |
| ENST00000642356.2:c.5840_5842dup (SCN9A) MANE Select | ENSP00000495601.1:p.Asp1947_Ala1948insAsp | |
| ENST00000644316.1:c.5684_5686dup (SCN9A) | ENSP00000493939.1:p.Asp1895_Ala1896insAsp | |
| ENST00000645907.1:c.5807_5809dup (SCN9A) | ENSP00000495983.1:p.Asp1936_Ala1937insAsp | |
| ENST00000646694.1:n.2217_2219dup (SCN9A) | ||
| ENST00000303354.10:c.5840_5842dup (SCN9A) | ENSP00000304748.7:p.Asp1947_Ala1948insAsp | |
| ENST00000409435.5:c.5840_5842dup (SCN9A) | ENSP00000386330.1:p.Asp1947_Ala1948insAsp | |
| ENST00000409672.5:c.5807_5809dup (SCN9A) | ENSP00000386306.1:p.Asp1936_Ala1937insAsp | |
| NM_002977.3:c.5807_5809dup , LRG_369t1:c.5807_5809dup (SCN9A) | NP_002968.1:p.Asp1936_Ala1937insAsp | |
| NR_110260.1:n.432-841_432-839dup (SCN1A-AS1) | ||
| XM_005246757.1:c.5840_5842dup (SCN9A) | XP_005246814.1:p.Asp1947_Ala1948insAsp | |
| XM_011511616.1:c.5840_5842dup (SCN9A) | XP_011509918.1:p.Asp1947_Ala1948insAsp | |
| XM_011511617.1:c.5840_5842dup (SCN9A) | XP_011509919.1:p.Asp1947_Ala1948insAsp | |
| XM_011511618.1:c.5807_5809dup (SCN9A) | XP_011509920.1:p.Asp1936_Ala1937insAsp | |
| NM_001365536.1:c.5840_5842dup (SCN9A) MANE Select | NP_001352465.1:p.Asp1947_Ala1948insAsp | |
| XM_011511616.3:c.5840_5842dup (SCN9A) | XP_011509918.1:p.Asp1947_Ala1948insAsp | |
| XM_011511617.2:c.5840_5842dup (SCN9A) | XP_011509919.1:p.Asp1947_Ala1948insAsp | |
| XM_011511618.2:c.5807_5809dup (SCN9A) | XP_011509920.1:p.Asp1936_Ala1937insAsp | |
| XM_017004668.1:c.5453_5455dup (SCN9A) | XP_016860157.1:p.Asp1818_Ala1819insAsp | |
| XM_017004669.1:c.5096_5098dup (SCN9A) | XP_016860158.1:p.Asp1699_Ala1700insAsp |