Canonical Allele Identifier: CA386959745

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615190T>C (hg19) ; chr12:g.121177387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177387T>C , CM000674.2:g.121177387T>C	GRCh38
NC_000012.11:g.121615190T>C , CM000674.1:g.121615190T>C	GRCh37
NC_000012.10:g.120099573T>C	NCBI36
NG_011471.2:g.49513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1129T>C MANE Select	ENSP00000330696.6:p.Cys377Arg
ENST00000261826.10:c.*582T>C	ENSP00000261826.6:n.*582T>C
ENST00000328963.9:c.1129T>C	ENSP00000330696.6:p.Cys377Arg
ENST00000535250.5:c.1213T>C	ENSP00000442572.2:n.1213T>C
ENST00000535600.2:c.946T>C	ENSP00000442470.1:n.946T>C
ENST00000537312.5:c.*900T>C	ENSP00000438586.1:n.*900T>C
ENST00000538011.5:c.1268T>C	ENSP00000439247.1:n.1268T>C
ENST00000539606.5:c.1352T>C	ENSP00000445325.1:n.1352T>C
ENST00000539695.5:n.1298T>C
ENST00000541022.5:c.919T>C	ENSP00000441230.1:n.919T>C
ENST00000541564.5:c.992T>C	ENSP00000443640.1:n.992T>C
ENST00000541716.5:c.1140T>C	ENSP00000437729.1:n.1140T>C
NM_002562.5:c.1129T>C	NP_002553.3:p.Cys377Arg
NR_033948.1:n.1495T>C
NR_033949.1:n.1411T>C
NR_033950.1:n.1372T>C
NR_033951.1:n.1356T>C
NR_033952.1:n.1283T>C
NR_033953.1:n.1196T>C
NR_033954.1:n.1175T>C
NR_033955.1:n.1135T>C
NR_033956.1:n.1062T>C
XM_011538418.1:c.862T>C	XP_011536720.1:p.Cys288Arg
XM_011538419.1:c.817T>C	XP_011536721.1:p.Cys273Arg
XM_011538420.1:c.262T>C	XP_011536722.1:p.Cys88Arg
XR_945459.1:n.190-14970A>G
XR_945460.1:n.299-14970A>G
XM_011538419.3:c.817T>C	XP_011536721.1:p.Cys273Arg
XM_011538420.3:c.262T>C	XP_011536722.1:p.Cys88Arg
XM_017019364.2:c.769T>C	XP_016874853.1:p.Cys257Arg
XM_017019365.2:c.769T>C	XP_016874854.1:p.Cys257Arg
XM_017019366.2:c.376T>C	XP_016874855.1:p.Cys126Arg
XM_017019367.2:c.376T>C	XP_016874856.1:p.Cys126Arg
XR_001749352.2:n.186+26111A>G
XR_001749353.2:n.304-14970A>G
XR_001749354.2:n.186+26111A>G
XR_945459.3:n.187-14970A>G
XR_945460.3:n.299-14970A>G
NM_002562.6:c.1129T>C MANE Select	NP_002553.3:p.Cys377Arg
NR_033948.2:n.1447T>C
NR_033949.2:n.1363T>C
NR_033950.2:n.1324T>C
NR_033951.2:n.1308T>C
NR_033952.2:n.1235T>C
NR_033953.2:n.1139T>C
NR_033954.2:n.1127T>C
NR_033955.2:n.1087T>C
NR_033956.2:n.1014T>C