Linked Data
ClinVar Variation Id:
2005032
ClinVar RCV Id:
RCV002828432
MyVariant Identifiers:
chr2:g.44145174G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918035G>A , CM000664.2:g.43918035G>A | GRCh38 |
| NC_000002.11:g.44145174G>A , CM000664.1:g.44145174G>A | GRCh37 |
| NC_000002.10:g.43998678G>A | NCBI36 |
| NG_008247.1:g.82971C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681993.1:n.690C>T | ||
| ENST00000682295.1:c.303+221C>T | ENSP00000507499.1:n.303+221C>T | |
| ENST00000682303.1:c.*2924C>T | ENSP00000508325.1:n.*2924C>T | |
| ENST00000682308.1:c.3138C>T | ENSP00000507056.1:p.Asn1046= | |
| ENST00000682480.1:c.3156C>T | ENSP00000508344.1:p.Asn1052= | |
| ENST00000682546.1:c.3135C>T | ENSP00000508188.1:p.Asn1045= | |
| ENST00000682585.1:c.3138C>T | ENSP00000506885.1:p.Asn1046= | |
| ENST00000682595.1:n.3722C>T | ||
| ENST00000682607.1:c.1556C>T | ||
| ENST00000682779.1:c.3129C>T | ENSP00000507947.1:p.Asn1043= | |
| ENST00000682845.1:n.2240C>T | ||
| ENST00000682885.1:c.3093C>T | ENSP00000508036.1:p.Asn1031= | |
| ENST00000682933.1:n.3212C>T | ||
| ENST00000683072.1:n.3722C>T | ||
| ENST00000683080.1:n.757C>T | ||
| ENST00000683125.1:c.3246C>T | ENSP00000507939.1:p.Asn1082= | |
| ENST00000683213.1:c.3141C>T | ENSP00000507751.1:p.Asn1047= | |
| ENST00000683220.1:c.3168C>T | ENSP00000507151.1:p.Asn1056= | |
| ENST00000683329.1:n.3941C>T | ||
| ENST00000683346.1:c.*3013C>T | ENSP00000507458.1:n.*3013C>T | |
| ENST00000683409.1:n.1745C>T | ||
| ENST00000683459.1:n.3725C>T | ||
| ENST00000683590.1:c.2897-5477C>T | ENSP00000506820.1:n.2897-5477C>T | |
| ENST00000683623.1:c.3045C>T | ENSP00000507702.1:p.Asn1015= | |
| ENST00000683645.1:n.3689C>T | ||
| ENST00000683796.1:c.*3010C>T | ENSP00000508221.1:n.*3010C>T | |
| ENST00000683802.1:n.6063C>T | ||
| ENST00000683833.1:c.3129C>T | ENSP00000506852.1:p.Asn1043= | |
| ENST00000683994.1:c.3138C>T | ENSP00000507181.1:p.Asn1046= | |
| ENST00000684290.1:c.*674C>T | ENSP00000507243.1:n.*674C>T | |
| ENST00000684306.1:c.*3051C>T | ENSP00000508384.1:n.*3051C>T | |
| ENST00000684341.1:n.3158C>T | ||
| ENST00000684383.1:c.*2776C>T | ENSP00000506863.1:n.*2776C>T | |
| ENST00000684619.1:c.*3010C>T | ENSP00000508088.1:n.*3010C>T | |
| ENST00000684705.1:n.259C>T | ||
| ENST00000684743.1:n.4169C>T | ||
| ENST00000260665.12:c.3138C>T MANE Select | ENSP00000260665.7:p.Asn1046= | |
| ENST00000260665.11:c.3138C>T | ENSP00000260665.7:p.Asn1046= | |
| NM_133259.3:c.3138C>T | NP_573566.2:p.Asn1046= | |
| XM_006711915.2:c.3060C>T | XP_006711978.1:p.Asn1020= | |
| XM_006711916.2:c.3138C>T | XP_006711979.1:p.Asn1046= | |
| XM_011532473.1:c.3138C>T | XP_011530775.1:p.Asn1046= | |
| XM_011532474.1:c.3138C>T | XP_011530776.1:p.Asn1046= | |
| XM_006711916.3:c.3138C>T | XP_006711979.1:p.Asn1046= | |
| XM_017003117.1:c.3060C>T | XP_016858606.1:p.Asn1020= | |
| XR_002958896.1:n.3180C>T | ||
| NM_133259.4:c.3138C>T MANE Select | NP_573566.2:p.Asn1046= |