Linked Data
ClinVar Variation Id:
2028414
ClinVar RCV Id:
RCV002893904
dbSNP Id:
rs1032403075
MyVariant Identifiers:
chr2:g.44145222G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918083G>A , CM000664.2:g.43918083G>A | GRCh38 |
| NC_000002.11:g.44145222G>A , CM000664.1:g.44145222G>A | GRCh37 |
| NC_000002.10:g.43998726G>A | NCBI36 |
| NG_008247.1:g.82923C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.642C>T | ||
| ENST00000682295.1:c.303+173C>T | ENSP00000507499.1:n.303+173C>T | |
| ENST00000682303.1:c.*2876C>T | ENSP00000508325.1:n.*2876C>T | |
| ENST00000682308.1:c.3090C>T | ENSP00000507056.1:p.Thr1030= | |
| ENST00000682480.1:c.3108C>T | ENSP00000508344.1:p.Thr1036= | |
| ENST00000682546.1:c.3087C>T | ENSP00000508188.1:p.Thr1029= | |
| ENST00000682585.1:c.3090C>T | ENSP00000506885.1:p.Thr1030= | |
| ENST00000682595.1:n.3674C>T | ||
| ENST00000682607.1:c.1508C>T | ||
| ENST00000682779.1:c.3081C>T | ENSP00000507947.1:p.Thr1027= | |
| ENST00000682845.1:n.2192C>T | ||
| ENST00000682885.1:c.3045C>T | ENSP00000508036.1:p.Thr1015= | |
| ENST00000682933.1:n.3164C>T | ||
| ENST00000683072.1:n.3674C>T | ||
| ENST00000683080.1:n.709C>T | ||
| ENST00000683125.1:c.3198C>T | ENSP00000507939.1:p.Thr1066= | |
| ENST00000683213.1:c.3093C>T | ENSP00000507751.1:p.Thr1031= | |
| ENST00000683220.1:c.3120C>T | ENSP00000507151.1:p.Thr1040= | |
| ENST00000683329.1:n.3893C>T | ||
| ENST00000683346.1:c.*2965C>T | ENSP00000507458.1:n.*2965C>T | |
| ENST00000683409.1:n.1697C>T | ||
| ENST00000683459.1:n.3677C>T | ||
| ENST00000683590.1:c.2897-5525C>T | ENSP00000506820.1:n.2897-5525C>T | |
| ENST00000683623.1:c.2997C>T | ENSP00000507702.1:p.Thr999= | |
| ENST00000683645.1:n.3641C>T | ||
| ENST00000683796.1:c.*2962C>T | ENSP00000508221.1:n.*2962C>T | |
| ENST00000683802.1:n.6015C>T | ||
| ENST00000683833.1:c.3081C>T | ENSP00000506852.1:p.Thr1027= | |
| ENST00000683994.1:c.3090C>T | ENSP00000507181.1:p.Thr1030= | |
| ENST00000684290.1:c.*626C>T | ENSP00000507243.1:n.*626C>T | |
| ENST00000684306.1:c.*3003C>T | ENSP00000508384.1:n.*3003C>T | |
| ENST00000684341.1:n.3110C>T | ||
| ENST00000684383.1:c.*2728C>T | ENSP00000506863.1:n.*2728C>T | |
| ENST00000684619.1:c.*2962C>T | ENSP00000508088.1:n.*2962C>T | |
| ENST00000684705.1:n.211C>T | ||
| ENST00000684743.1:n.4121C>T | ||
| ENST00000260665.12:c.3090C>T MANE Select | ENSP00000260665.7:p.Thr1030= | |
| ENST00000260665.11:c.3090C>T | ENSP00000260665.7:p.Thr1030= | |
| NM_133259.3:c.3090C>T | NP_573566.2:p.Thr1030= | |
| XM_006711915.2:c.3012C>T | XP_006711978.1:p.Thr1004= | |
| XM_006711916.2:c.3090C>T | XP_006711979.1:p.Thr1030= | |
| XM_011532473.1:c.3090C>T | XP_011530775.1:p.Thr1030= | |
| XM_011532474.1:c.3090C>T | XP_011530776.1:p.Thr1030= | |
| XM_006711916.3:c.3090C>T | XP_006711979.1:p.Thr1030= | |
| XM_017003117.1:c.3012C>T | XP_016858606.1:p.Thr1004= | |
| XR_002958896.1:n.3132C>T | ||
| NM_133259.4:c.3090C>T MANE Select | NP_573566.2:p.Thr1030= |