Canonical Allele Identifier: CA10054579
Gene: TRPM2 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44391460T>G , CM000683.2:g.44391460T>G GRCh38
NC_000021.8:g.45811343T>G , CM000683.1:g.45811343T>G GRCh37
NC_000021.7:g.44635771T>G NCBI36
NG_022913.1:g.42860T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397928.6:c.1629T>G MANE Select ENSP00000381023.1:p.Asp543Glu
ENST00000300481.13:c.1611+18T>G ENSP00000300481.9:n.1611+18T>G
ENST00000300482.9:c.1629T>G ENSP00000300482.5:p.Asp543Glu
ENST00000397928.5:c.1629T>G ENSP00000381023.1:p.Asp543Glu
ENST00000397932.6:c.1629T>G ENSP00000381026.2:p.Asp543Glu
ENST00000498430.5:n.1081T>G
NM_003307.3:c.1629T>G NP_003298.1:p.Asp543Glu
NR_038257.1:n.1729T>G
XM_005261171.2:c.1629T>G XP_005261228.1:p.Asp543Glu
XM_006724049.2:c.1629T>G XP_006724112.1:p.Asp543Glu
XM_011529734.1:c.1629T>G XP_011528036.1:p.Asp543Glu
XM_011529735.1:c.1629T>G XP_011528037.1:p.Asp543Glu
XM_011529736.1:c.1629T>G XP_011528038.1:p.Asp543Glu
XM_011529737.1:c.1629T>G XP_011528039.1:p.Asp543Glu
XR_937565.1:n.2124T>G
XR_937566.1:n.2123T>G
NM_001320350.1:c.1629T>G NP_001307279.1:p.Asp543Glu
NM_001320351.1:c.1629T>G NP_001307280.1:p.Asp543Glu
XM_005261171.3:c.1629T>G XP_005261228.1:p.Asp543Glu
XM_011529736.2:c.1629T>G XP_011528038.1:p.Asp543Glu
XM_017028456.1:c.1629T>G XP_016883945.1:p.Asp543Glu
XM_017028457.2:c.1629T>G XP_016883946.1:p.Asp543Glu
XR_001754900.2:n.2136T>G
XR_001754901.2:n.2136T>G
XR_001754902.2:n.2134T>G
XR_002958631.1:n.2137T>G
NM_001320350.2:c.1629T>G NP_001307279.2:p.Asp543Glu
NM_001320351.2:c.1629T>G NP_001307280.2:p.Asp543Glu
NM_003307.4:c.1629T>G MANE Select NP_003298.2:p.Asp543Glu
NR_038257.2:n.1709T>G