Linked Data
ClinVar Variation Id:
420352
ClinVar RCV Id:
RCV000486315
dbSNP Id:
rs538513207
gnomAD v2:
8-145582845-TAGA-T
gnomAD v3:
8-144359185-TAGA-T
gnomAD v4:
8-144359185-TAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144359191_144359193del , CM000670.2:g.144359191_144359193del | GRCh38 |
| NC_000008.10:g.145582851_145582853del , CM000670.1:g.145582851_145582853del | GRCh37 |
| NC_000008.9:g.145553659_145553661del | NCBI36 |
| NG_032872.1:g.5635_5637del | |
| NG_032872.2:g.5635_5637del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329994.7:c.-103_-101del (SLC52A2) | ENSP00000333638.2:n.-103_-101del | |
| ENST00000526338.7:c.-103_-101del (SLC52A2) | ENSP00000433583.3:n.-103_-101del | |
| ENST00000526752.3:c.-103_-101del (SLC52A2) | ENSP00000433796.1:n.-103_-101del | |
| ENST00000526779.3:c.-103_-101del (SLC52A2) | ENSP00000436917.1:n.-103_-101del | |
| ENST00000526891.2:c.-264_-262del (SLC52A2) | ENSP00000502670.1:n.-264_-262del | |
| ENST00000527078.6:c.-103_-101del (SLC52A2) | ENSP00000434728.1:n.-103_-101del | |
| ENST00000532815.2:c.-103_-101del (SLC52A2) | ENSP00000501933.1:n.-103_-101del | |
| ENST00000533662.2:c.-103_-101del (SLC52A2) | ENSP00000502274.1:n.-103_-101del | |
| ENST00000534725.6:c.-103_-101del (SLC52A2) | ||
| ENST00000643944.2:c.-103_-101del (SLC52A2) MANE Select | ENSP00000496184.2:n.-103_-101del | |
| ENST00000674870.1:c.-60-43_-60-41del (SLC52A2) | ENSP00000502406.1:n.-60-43_-60-41del | |
| ENST00000674929.1:c.-103_-101del (SLC52A2) | ||
| ENST00000675121.1:c.-103_-101del (SLC52A2) | ENSP00000501993.1:n.-103_-101del | |
| ENST00000675280.1:c.-103_-101del (SLC52A2) | ||
| ENST00000675292.1:c.-103_-101del (SLC52A2) | ENSP00000502652.1:n.-103_-101del | |
| ENST00000675597.1:c.-103_-101del (SLC52A2) | ENSP00000501973.1:n.-103_-101del | |
| ENST00000675888.1:c.-103_-101del (SLC52A2) | ENSP00000502294.1:n.-103_-101del | |
| ENST00000676358.1:c.-103_-101del (SLC52A2) | ENSP00000501821.1:n.-103_-101del | |
| ENST00000329994.6:c.-103_-101del (SLC52A2) | ENSP00000333638.2:n.-103_-101del | |
| ENST00000402965.5:c.-103_-101del (SLC52A2) | ||
| ENST00000524541.5:c.-103_-101del (SLC52A2) | ENSP00000434239.1:n.-103_-101del | |
| ENST00000526338.5:c.-103_-101del (SLC52A2) | ENSP00000433583.1:n.-103_-101del | |
| ENST00000526752.1:c.-103_-101del (SLC52A2) | ENSP00000433796.1:n.-103_-101del | |
| ENST00000526779.1:c.-103_-101del (SLC52A2) | ENSP00000436917.1:n.-103_-101del | |
| ENST00000526891.1:n.84_86del (SLC52A2) | ||
| ENST00000527078.5:c.-103_-101del (SLC52A2) | ENSP00000434728.1:n.-103_-101del | |
| ENST00000530047.5:c.-103_-101del (SLC52A2) | ENSP00000435820.1:n.-103_-101del | |
| ENST00000530142.5:n.86_88del (FBXL6) | ||
| ENST00000532815.1:n.407_409del (SLC52A2) | ||
| ENST00000532887.5:c.-103_-101del (SLC52A2) | ENSP00000436768.1:n.-103_-101del | |
| ENST00000533662.1:n.597_599del (SLC52A2) | ||
| ENST00000534725.5:c.-103_-101del (SLC52A2) | ENSP00000431965.1:n.-103_-101del | |
| NM_001253815.1:c.-103_-101del (SLC52A2) | ||
| NM_001253816.1:c.-103_-101del (SLC52A2) | NP_001240745.1:n.-103_-101del | |
| NM_024531.4:c.-103_-101del (SLC52A2) | NP_078807.1:n.-103_-101del | |
| NR_045600.1:n.493_495del (SLC52A2) | ||
| XM_006716658.1:c.-103_-101del (SLC52A2) | XP_006716721.1:n.-103_-101del | |
| XM_006716659.1:c.-103_-101del (SLC52A2) | XP_006716722.1:n.-103_-101del | |
| XM_006716660.1:c.-103_-101del (SLC52A2) | ||
| NM_001363118.1:c.-103_-101del (SLC52A2) | NP_001350047.1:n.-103_-101del | |
| NM_001363120.1:c.-103_-101del (SLC52A2) | NP_001350049.1:n.-103_-101del | |
| NM_001363121.1:c.-103_-101del (SLC52A2) | ||
| NM_001363122.1:c.-103_-101del (SLC52A2) | NP_001350051.1:n.-103_-101del | |
| XM_017013821.1:c.-103_-101del (SLC52A2) | XP_016869310.1:n.-103_-101del | |
| XM_017013822.1:c.-103_-101del (SLC52A2) | XP_016869311.1:n.-103_-101del | |
| NM_001253815.2:c.-103_-101del (SLC52A2) | ||
| NM_001253816.2:c.-103_-101del (SLC52A2) | NP_001240745.1:n.-103_-101del | |
| NM_001363118.2:c.-103_-101del (SLC52A2) MANE Select | NP_001350047.1:n.-103_-101del | |
| NM_001363120.2:c.-103_-101del (SLC52A2) | NP_001350049.1:n.-103_-101del | |
| NM_001363121.2:c.-103_-101del (SLC52A2) | ||
| NM_001363122.2:c.-103_-101del (SLC52A2) | NP_001350051.1:n.-103_-101del | |
| NM_024531.5:c.-103_-101del (SLC52A2) | NP_078807.1:n.-103_-101del | |
| NR_045600.2:n.461_463del (SLC52A2) |