Canonical Allele Identifier: CA410689920
Gene: COMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19964301T>C , CM000684.2:g.19964301T>C GRCh38
NC_000022.10:g.19951824T>C , CM000684.1:g.19951824T>C GRCh37
NC_000022.9:g.18331824T>C NCBI36
NG_011526.1:g.27562T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.615+2T>C MANE Select ENSP00000354511.6:n.615+2T>C
ENST00000428707.2:c.615+2T>C ENSP00000387695.2:n.615+2T>C
ENST00000676678.1:c.615+2T>C ENSP00000503719.1:n.615+2T>C
ENST00000677397.1:c.465+2T>C ENSP00000503422.1:n.465+2T>C
ENST00000677470.1:n.465+2T>C
ENST00000677564.1:n.398+2T>C
ENST00000677675.1:n.415+2T>C
ENST00000678240.1:n.465T>C
ENST00000678255.1:c.615+2T>C ENSP00000504402.1:n.615+2T>C
ENST00000678769.1:c.615+2T>C ENSP00000503289.1:n.615+2T>C
ENST00000678868.1:c.615+2T>C ENSP00000503583.1:n.615+2T>C
ENST00000678945.1:n.483+2T>C
ENST00000207636.9:c.*73+2T>C ENSP00000207636.5:n.*73+2T>C
ENST00000361682.10:c.615+2T>C ENSP00000354511.6:n.615+2T>C
ENST00000403184.5:c.617T>C ENSP00000383966.1:p.Val206Ala
ENST00000403710.5:c.615+2T>C ENSP00000385917.1:n.615+2T>C
ENST00000406520.7:c.615+2T>C ENSP00000385150.3:n.615+2T>C
ENST00000407537.5:c.615+2T>C ENSP00000384654.2:n.615+2T>C
ENST00000412786.5:c.615+2T>C ENSP00000403958.1:n.615+2T>C
ENST00000428707.1:c.193+2T>C
ENST00000449653.5:c.465+2T>C ENSP00000416778.1:n.465+2T>C
NM_000754.3:c.615+2T>C NP_000745.1:n.615+2T>C
NM_001135161.1:c.615+2T>C NP_001128633.1:n.615+2T>C
NM_001135162.1:c.615+2T>C NP_001128634.1:n.615+2T>C
NM_007310.2:c.465+2T>C NP_009294.1:n.465+2T>C
XM_011529885.1:c.729+2T>C XP_011528187.1:n.729+2T>C
XM_011529886.1:c.729+2T>C XP_011528188.1:n.729+2T>C
XM_011529887.1:c.615+2T>C XP_011528189.1:n.615+2T>C
XM_011529888.1:c.615+2T>C XP_011528190.1:n.615+2T>C
XM_011529889.1:c.615+2T>C XP_011528191.1:n.615+2T>C
XM_011529890.1:c.615+2T>C XP_011528192.1:n.615+2T>C
XM_011529891.1:c.615+2T>C XP_011528193.1:n.615+2T>C
NM_001362828.1:c.615+2T>C NP_001349757.1:n.615+2T>C
XM_011529886.2:c.1026+2T>C XP_011528188.2:n.1026+2T>C
XM_017028595.1:c.615+2T>C XP_016884084.1:n.615+2T>C
NM_000754.4:c.615+2T>C MANE Select NP_000745.1:n.615+2T>C
NM_001135161.2:c.615+2T>C NP_001128633.1:n.615+2T>C
NM_001135162.2:c.615+2T>C NP_001128634.1:n.615+2T>C
NM_001362828.2:c.615+2T>C NP_001349757.1:n.615+2T>C
NM_007310.3:c.465+2T>C NP_009294.1:n.465+2T>C