Linked Data
dbSNP Id:
rs766304189
ExAC:
2:203384962 G / GTT
gnomAD v2:
2-203384962-G-GTT
gnomAD v4:
2-202520239-G-GTT
MyVariant Identifiers:
chr2:g.203384962_203384963insTT (hg19)
chr2:g.202520239_202520240insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202520240_202520241dup , CM000664.2:g.202520240_202520241dup | GRCh38 |
| NC_000002.11:g.203384963_203384964dup , CM000664.1:g.203384963_203384964dup | GRCh37 |
| NC_000002.10:g.203093208_203093209dup | NCBI36 |
| NG_009363.1:g.148914_148915dup , LRG_712:g.148914_148915dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.967+39_967+40dup MANE Select | ENSP00000363708.4:n.967+39_967+40dup | |
| ENST00000638587.1:c.898+39_898+40dup | ENSP00000491062.1:n.898+39_898+40dup | |
| ENST00000374574.2:c.967+39_967+40dup | ENSP00000363702.2:n.967+39_967+40dup | |
| ENST00000374580.8:c.967+39_967+40dup | ENSP00000363708.4:n.967+39_967+40dup | |
| NM_001204.6:c.967+39_967+40dup , LRG_712t1:c.967+39_967+40dup | NP_001195.2:n.967+39_967+40dup | |
| XM_011511687.1:c.967+39_967+40dup | XP_011509989.1:n.967+39_967+40dup | |
| XM_011511688.1:c.967+39_967+40dup | XP_011509990.1:n.967+39_967+40dup | |
| NM_001204.7:c.967+39_967+40dup MANE Select | NP_001195.2:n.967+39_967+40dup |