Canonical Allele Identifier: CA386959177

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177334-C-G
• MyVariant Identifiers: chr12:g.121615137C>G (hg19) ; chr12:g.121177334C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177334C>G , CM000674.2:g.121177334C>G	GRCh38
NC_000012.11:g.121615137C>G , CM000674.1:g.121615137C>G	GRCh37
NC_000012.10:g.120099520C>G	NCBI36
NG_011471.2:g.49460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1076C>G MANE Select	ENSP00000330696.6:p.Ser359Cys
ENST00000261826.10:c.*529C>G	ENSP00000261826.6:n.*529C>G
ENST00000328963.9:c.1076C>G	ENSP00000330696.6:p.Ser359Cys
ENST00000535250.5:c.1160C>G	ENSP00000442572.2:n.1160C>G
ENST00000535600.2:c.893C>G	ENSP00000442470.1:n.893C>G
ENST00000537312.5:c.*847C>G	ENSP00000438586.1:n.*847C>G
ENST00000538011.5:c.1215C>G	ENSP00000439247.1:n.1215C>G
ENST00000539606.5:c.1299C>G	ENSP00000445325.1:n.1299C>G
ENST00000539695.5:n.1245C>G
ENST00000541022.5:c.866C>G	ENSP00000441230.1:n.866C>G
ENST00000541564.5:c.939C>G	ENSP00000443640.1:n.939C>G
ENST00000541716.5:c.1087C>G	ENSP00000437729.1:n.1087C>G
NM_002562.5:c.1076C>G	NP_002553.3:p.Ser359Cys
NR_033948.1:n.1442C>G
NR_033949.1:n.1358C>G
NR_033950.1:n.1319C>G
NR_033951.1:n.1303C>G
NR_033952.1:n.1230C>G
NR_033953.1:n.1143C>G
NR_033954.1:n.1122C>G
NR_033955.1:n.1082C>G
NR_033956.1:n.1009C>G
XM_011538418.1:c.809C>G	XP_011536720.1:p.Ser270Cys
XM_011538419.1:c.764C>G	XP_011536721.1:p.Ser255Cys
XM_011538420.1:c.209C>G	XP_011536722.1:p.Ser70Cys
XR_945459.1:n.190-14917G>C
XR_945460.1:n.299-14917G>C
XM_011538419.3:c.764C>G	XP_011536721.1:p.Ser255Cys
XM_011538420.3:c.209C>G	XP_011536722.1:p.Ser70Cys
XM_017019364.2:c.716C>G	XP_016874853.1:p.Ser239Cys
XM_017019365.2:c.716C>G	XP_016874854.1:p.Ser239Cys
XM_017019366.2:c.323C>G	XP_016874855.1:p.Ser108Cys
XM_017019367.2:c.323C>G	XP_016874856.1:p.Ser108Cys
XR_001749352.2:n.186+26164G>C
XR_001749353.2:n.304-14917G>C
XR_001749354.2:n.186+26164G>C
XR_945459.3:n.187-14917G>C
XR_945460.3:n.299-14917G>C
NM_002562.6:c.1076C>G MANE Select	NP_002553.3:p.Ser359Cys
NR_033948.2:n.1394C>G
NR_033949.2:n.1310C>G
NR_033950.2:n.1271C>G
NR_033951.2:n.1255C>G
NR_033952.2:n.1182C>G
NR_033953.2:n.1086C>G
NR_033954.2:n.1074C>G
NR_033955.2:n.1034C>G
NR_033956.2:n.961C>G