Canonical Allele Identifier: CA10104419

Gene: COMT TXNRD2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19941802A>G , CM000684.2:g.19941802A>G	GRCh38
NC_000022.10:g.19929325A>G , CM000684.1:g.19929325A>G	GRCh37
NC_000022.9:g.18309325A>G	NCBI36
NG_011526.1:g.5063A>G
NG_011835.1:g.5035T>C , LRG_417:g.5035T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000754.4:c.-187A>G (COMT) MANE Select	NP_000745.1:n.-187A>G
NM_006440.5:c.2T>C (TXNRD2) MANE Select	NP_006431.2:p.Met1Thr
ENST00000361682.11:c.-187A>G (COMT) MANE Select	ENSP00000354511.6:n.-187A>G
ENST00000400521.7:c.2T>C (TXNRD2) MANE Select	ENSP00000383365.1:p.Met1Thr
NM_000754.3:c.-187A>G (COMT)	NP_000745.1:n.-187A>G
NM_001282512.1:c.2T>C (TXNRD2)	NP_001269441.1:p.Met1Thr
NM_001282512.2:c.2T>C (TXNRD2)	NP_001269441.1:p.Met1Thr
NM_001282512.3:c.2T>C (TXNRD2)	NP_001269441.1:p.Met1Thr
NM_001352300.1:c.2T>C (TXNRD2)	NP_001339229.1:p.Met1Thr
NM_001352300.2:c.2T>C (TXNRD2)	NP_001339229.1:p.Met1Thr
NM_001362828.1:c.-481A>G (COMT)	NP_001349757.1:n.-481A>G
NM_001362828.2:c.-481A>G (COMT)	NP_001349757.1:n.-481A>G
NM_006440.4:c.2T>C (TXNRD2)	NP_006431.2:p.Met1Thr
NR_147957.1:n.191T>C (TXNRD2)
NR_147957.2:n.17T>C (TXNRD2)
ENST00000334363.14:c.2T>C (TXNRD2)	ENSP00000334451.9:p.Met1Thr
ENST00000361682.10:c.-187A>G (COMT)	ENSP00000354511.6:n.-187A>G
ENST00000400519.6:c.2T>C (TXNRD2)	ENSP00000383363.1:p.Met1Thr
ENST00000400521.6:c.2T>C (TXNRD2)	ENSP00000383365.1:p.Met1Thr
ENST00000400525.6:c.2T>C (TXNRD2)	ENSP00000383369.3:p.Met1Thr
ENST00000403184.5:c.-187A>G (COMT)	ENSP00000383966.1:n.-187A>G
ENST00000403710.5:c.-481A>G (COMT)	ENSP00000385917.1:n.-481A>G
ENST00000407537.5:c.-365A>G (COMT)	ENSP00000384654.2:n.-365A>G
ENST00000467943.5:n.10A>G (COMT)
ENST00000474308.5:c.2T>C (TXNRD2)	ENSP00000485665.1:p.Met1Thr
ENST00000496729.2:n.7T>C (TXNRD2)
ENST00000676678.1:c.-92+227A>G (COMT)	ENSP00000503719.1:n.-92+227A>G
XM_011529887.1:c.-187A>G (COMT)	XP_011528189.1:n.-187A>G