Linked Data
dbSNP Id:
rs376657620
gnomAD v3:
2-25168154-C-CAAAAAAA
gnomAD v4:
2-25168154-C-CAAAAAAA
MyVariant Identifiers:
chr2:g.25391023_25391024insAAAAAAA (hg19)
chr2:g.25168154_25168155insAAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25168163_25168169dup , CM000664.2:g.25168163_25168169dup | GRCh38 |
| NC_000002.11:g.25391032_25391038dup , CM000664.1:g.25391032_25391038dup | GRCh37 |
| NC_000002.10:g.25244536_25244542dup | NCBI36 |
| NG_008997.1:g.5530_5536dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395826.7:c.-21+337_-21+343dup MANE Select | ENSP00000379170.2:n.-21+337_-21+343dup | |
| ENST00000264708.7:c.-101+337_-101+343dup | ENSP00000264708.3:n.-101+337_-101+343dup | |
| ENST00000380794.5:c.-71+337_-71+343dup | ENSP00000370171.1:n.-71+337_-71+343dup | |
| ENST00000395826.6:c.-21+337_-21+343dup | ENSP00000379170.2:n.-21+337_-21+343dup | |
| ENST00000405623.5:c.-51+337_-51+343dup | ENSP00000384092.1:n.-51+337_-51+343dup | |
| ENST00000449220.1:c.-71+337_-71+343dup | ENSP00000387993.1:n.-71+337_-71+343dup | |
| NM_000939.2:c.-21+337_-21+343dup | NP_000930.1:n.-21+337_-21+343dup | |
| NM_001035256.1:c.-71+337_-71+343dup | NP_001030333.1:n.-71+337_-71+343dup | |
| XM_011532917.1:c.-51+337_-51+343dup | XP_011531219.1:n.-51+337_-51+343dup | |
| NM_000939.3:c.-21+337_-21+343dup | NP_000930.1:n.-21+337_-21+343dup | |
| NM_001035256.2:c.-71+337_-71+343dup | NP_001030333.1:n.-71+337_-71+343dup | |
| NM_001319204.1:c.-101+337_-101+343dup | NP_001306133.1:n.-101+337_-101+343dup | |
| NM_001319205.1:c.-51+337_-51+343dup | NP_001306134.1:n.-51+337_-51+343dup | |
| NM_000939.4:c.-21+337_-21+343dup MANE Select | NP_000930.1:n.-21+337_-21+343dup | |
| NM_001319204.2:c.-101+337_-101+343dup | NP_001306133.1:n.-101+337_-101+343dup | |
| NM_001319205.2:c.-51+337_-51+343dup | NP_001306134.1:n.-51+337_-51+343dup | |
| NM_001035256.3:c.-71+337_-71+343dup | NP_001030333.1:n.-71+337_-71+343dup |