Linked Data
gnomAD v4:
2-241767732-T-C
COSMIC:
COSM5344161
MyVariant Identifiers:
chr2:g.242707147T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767732T>C , CM000664.2:g.241767732T>C | GRCh38 |
| NC_000002.11:g.242707147T>C , CM000664.1:g.242707147T>C | GRCh37 |
| NC_000002.10:g.242355820T>C | NCBI36 |
| NG_012012.1:g.38118T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1329T>C MANE Select | ENSP00000315351.4:p.Asn443= | |
| ENST00000321264.8:c.1329T>C | ENSP00000315351.4:p.Asn443= | |
| ENST00000400769.6:c.*79T>C | ENSP00000383580.2:n.*79T>C | |
| ENST00000403782.5:c.927T>C | ENSP00000384723.1:p.Asn309= | |
| ENST00000436747.5:c.*2565T>C | ENSP00000400212.1:n.*2565T>C | |
| ENST00000445308.1:c.725T>C | ||
| ENST00000468064.5:n.1219T>C | ||
| ENST00000470343.5:n.810T>C | ||
| ENST00000473126.1:n.528T>C | ||
| ENST00000486953.5:n.1153T>C | ||
| ENST00000610344.1:c.*173T>C | ENSP00000481906.1:n.*173T>C | |
| NM_001287249.1:c.927T>C | NP_001274178.1:p.Asn309= | |
| NM_152783.4:c.1329T>C | NP_689996.4:p.Asn443= | |
| NR_109778.1:n.1251T>C | ||
| XM_011511734.1:c.1449T>C | XP_011510036.1:p.Asn483= | |
| XM_011511735.1:c.1407T>C | XP_011510037.1:p.Asn469= | |
| XM_011511736.1:c.1371T>C | XP_011510038.1:p.Asn457= | |
| XM_011511744.1:c.*61T>C | XP_011510046.1:n.*61T>C | |
| XM_011511750.1:c.1241T>C | XP_011510052.1:p.Met414Thr | |
| XM_011511754.1:c.888T>C | XP_011510056.1:p.Asn296= | |
| XM_011511755.1:c.879T>C | XP_011510057.1:p.Asn293= | |
| XM_011511756.1:c.876T>C | XP_011510058.1:p.Asn292= | |
| XR_923004.1:n.1961T>C | ||
| XR_923007.1:n.1671T>C | ||
| XR_923011.1:n.1772T>C | ||
| NM_001352824.1:c.768T>C | NP_001339753.1:p.Asn256= | |
| XM_011511734.2:c.1449T>C | XP_011510036.1:p.Asn483= | |
| XM_011511735.2:c.1407T>C | XP_011510037.1:p.Asn469= | |
| XM_011511736.2:c.1371T>C | XP_011510038.1:p.Asn457= | |
| XM_011511744.2:c.*61T>C | XP_011510046.1:n.*61T>C | |
| XM_011511750.3:c.1241T>C | XP_011510052.1:p.Met414Thr | |
| XM_011511756.2:c.876T>C | XP_011510058.1:p.Asn292= | |
| XM_024453102.1:c.1221T>C | XP_024308870.1:p.Asn407= | |
| XR_001738918.2:n.1703T>C | ||
| XR_001738919.2:n.1637T>C | ||
| XR_923004.3:n.1960T>C | ||
| XR_923007.3:n.1670T>C | ||
| XR_923011.3:n.1771T>C | ||
| NM_152783.5:c.1329T>C MANE Select | NP_689996.4:p.Asn443= | |
| NM_001287249.2:c.927T>C | NP_001274178.1:p.Asn309= | |
| NM_001352824.2:c.768T>C | NP_001339753.1:p.Asn256= | |
| NR_109778.2:n.1200T>C |