Linked Data
dbSNP Id:
rs1239635452
gnomAD v2:
2-203417618-C-CAAAGTA
MyVariant Identifiers:
chr2:g.203417618_203417619insAAAGTA (hg19)
chr2:g.202552895_202552896insAAAGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202552895_202552896insAAAGTA , CM000664.2:g.202552895_202552896insAAAGTA | GRCh38 |
| NC_000002.11:g.203417618_203417619insAAAGTA , CM000664.1:g.203417618_203417619insAAAGTA | GRCh37 |
| NC_000002.10:g.203125863_203125864insAAAGTA | NCBI36 |
| NG_009363.1:g.181569_181570insAAAGTA , LRG_712:g.181569_181570insAAAGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1586+7_1586+8insAAAGTA MANE Select | ENSP00000363708.4:n.1586+7_1586+8insAAAGTA | |
| ENST00000638587.1:c.1517+7_1517+8insAAAGTA | ENSP00000491062.1:n.1517+7_1517+8insAAAGTA | |
| ENST00000374574.2:c.1586+7_1586+8insAAAGTA | ENSP00000363702.2:n.1586+7_1586+8insAAAGTA | |
| ENST00000374580.8:c.1586+7_1586+8insAAAGTA | ENSP00000363708.4:n.1586+7_1586+8insAAAGTA | |
| NM_001204.6:c.1586+7_1586+8insAAAGTA , LRG_712t1:c.1586+7_1586+8insAAAGTA | NP_001195.2:n.1586+7_1586+8insAAAGTA | |
| XM_011511687.1:c.1586+7_1586+8insAAAGTA | XP_011509989.1:n.1586+7_1586+8insAAAGTA | |
| XM_011511688.1:c.1586+7_1586+8insAAAGTA | XP_011509990.1:n.1586+7_1586+8insAAAGTA | |
| NM_001204.7:c.1586+7_1586+8insAAAGTA MANE Select | NP_001195.2:n.1586+7_1586+8insAAAGTA |