Linked Data
dbSNP Id:
rs539397286
gnomAD v2:
2-203417391-A-ATT
gnomAD v3:
2-202552668-A-ATT
gnomAD v4:
2-202552668-A-ATT
MyVariant Identifiers:
chr2:g.203417393_203417394insTT (hg19)
chr2:g.202552670_202552671insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202552678_202552679dup , CM000664.2:g.202552678_202552679dup | GRCh38 |
| NC_000002.11:g.203417401_203417402dup , CM000664.1:g.203417401_203417402dup | GRCh37 |
| NC_000002.10:g.203125646_203125647dup | NCBI36 |
| NG_009363.1:g.181352_181353dup , LRG_712:g.181352_181353dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.1414-38_1414-37dup MANE Select | ENSP00000363708.4:n.1414-38_1414-37dup | |
| ENST00000638587.1:c.1345-38_1345-37dup | ENSP00000491062.1:n.1345-38_1345-37dup | |
| ENST00000374574.2:c.1414-38_1414-37dup | ENSP00000363702.2:n.1414-38_1414-37dup | |
| ENST00000374580.8:c.1414-38_1414-37dup | ENSP00000363708.4:n.1414-38_1414-37dup | |
| NM_001204.6:c.1414-38_1414-37dup , LRG_712t1:c.1414-38_1414-37dup | NP_001195.2:n.1414-38_1414-37dup | |
| XM_011511687.1:c.1414-38_1414-37dup | XP_011509989.1:n.1414-38_1414-37dup | |
| XM_011511688.1:c.1414-38_1414-37dup | XP_011509990.1:n.1414-38_1414-37dup | |
| NM_001204.7:c.1414-38_1414-37dup MANE Select | NP_001195.2:n.1414-38_1414-37dup |