Canonical Allele Identifier: CA244546345

Gene: P2RX7

Linked Data

• dbSNP Id: rs907993565
• gnomAD v2: 12-121615133-T-C
• gnomAD v3: 12-121177330-T-C
• gnomAD v4: 12-121177330-T-C
• MyVariant Identifiers: chr12:g.121615133T>C (hg19) ; chr12:g.121177330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177330T>C , CM000674.2:g.121177330T>C	GRCh38
NC_000012.11:g.121615133T>C , CM000674.1:g.121615133T>C	GRCh37
NC_000012.10:g.120099516T>C	NCBI36
NG_011471.2:g.49456T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1072T>C MANE Select	ENSP00000330696.6:p.Tyr358His
ENST00000261826.10:c.*525T>C	ENSP00000261826.6:n.*525T>C
ENST00000328963.9:c.1072T>C	ENSP00000330696.6:p.Tyr358His
ENST00000535250.5:c.1156T>C	ENSP00000442572.2:n.1156T>C
ENST00000535600.2:c.889T>C	ENSP00000442470.1:n.889T>C
ENST00000537312.5:c.*843T>C	ENSP00000438586.1:n.*843T>C
ENST00000538011.5:c.1211T>C	ENSP00000439247.1:n.1211T>C
ENST00000539606.5:c.1295T>C	ENSP00000445325.1:n.1295T>C
ENST00000539695.5:n.1241T>C
ENST00000541022.5:c.862T>C	ENSP00000441230.1:n.862T>C
ENST00000541564.5:c.935T>C	ENSP00000443640.1:n.935T>C
ENST00000541716.5:c.1083T>C	ENSP00000437729.1:n.1083T>C
NM_002562.5:c.1072T>C	NP_002553.3:p.Tyr358His
NR_033948.1:n.1438T>C
NR_033949.1:n.1354T>C
NR_033950.1:n.1315T>C
NR_033951.1:n.1299T>C
NR_033952.1:n.1226T>C
NR_033953.1:n.1139T>C
NR_033954.1:n.1118T>C
NR_033955.1:n.1078T>C
NR_033956.1:n.1005T>C
XM_011538418.1:c.805T>C	XP_011536720.1:p.Tyr269His
XM_011538419.1:c.760T>C	XP_011536721.1:p.Tyr254His
XM_011538420.1:c.205T>C	XP_011536722.1:p.Tyr69His
XR_945459.1:n.190-14913A>G
XR_945460.1:n.299-14913A>G
XM_011538419.3:c.760T>C	XP_011536721.1:p.Tyr254His
XM_011538420.3:c.205T>C	XP_011536722.1:p.Tyr69His
XM_017019364.2:c.712T>C	XP_016874853.1:p.Tyr238His
XM_017019365.2:c.712T>C	XP_016874854.1:p.Tyr238His
XM_017019366.2:c.319T>C	XP_016874855.1:p.Tyr107His
XM_017019367.2:c.319T>C	XP_016874856.1:p.Tyr107His
XR_001749352.2:n.186+26168A>G
XR_001749353.2:n.304-14913A>G
XR_001749354.2:n.186+26168A>G
XR_945459.3:n.187-14913A>G
XR_945460.3:n.299-14913A>G
NM_002562.6:c.1072T>C MANE Select	NP_002553.3:p.Tyr358His
NR_033948.2:n.1390T>C
NR_033949.2:n.1306T>C
NR_033950.2:n.1267T>C
NR_033951.2:n.1251T>C
NR_033952.2:n.1178T>C
NR_033953.2:n.1082T>C
NR_033954.2:n.1070T>C
NR_033955.2:n.1030T>C
NR_033956.2:n.957T>C