Canonical Allele Identifier: CA386959595

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615177G>C (hg19) ; chr12:g.121177374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177374G>C , CM000674.2:g.121177374G>C	GRCh38
NC_000012.11:g.121615177G>C , CM000674.1:g.121615177G>C	GRCh37
NC_000012.10:g.120099560G>C	NCBI36
NG_011471.2:g.49500G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1116G>C MANE Select	ENSP00000330696.6:p.Lys372Asn
ENST00000261826.10:c.*569G>C	ENSP00000261826.6:n.*569G>C
ENST00000328963.9:c.1116G>C	ENSP00000330696.6:p.Lys372Asn
ENST00000535250.5:c.1200G>C	ENSP00000442572.2:n.1200G>C
ENST00000535600.2:c.933G>C	ENSP00000442470.1:n.933G>C
ENST00000537312.5:c.*887G>C	ENSP00000438586.1:n.*887G>C
ENST00000538011.5:c.1255G>C	ENSP00000439247.1:n.1255G>C
ENST00000539606.5:c.1339G>C	ENSP00000445325.1:n.1339G>C
ENST00000539695.5:n.1285G>C
ENST00000541022.5:c.906G>C	ENSP00000441230.1:n.906G>C
ENST00000541564.5:c.979G>C	ENSP00000443640.1:n.979G>C
ENST00000541716.5:c.1127G>C	ENSP00000437729.1:n.1127G>C
NM_002562.5:c.1116G>C	NP_002553.3:p.Lys372Asn
NR_033948.1:n.1482G>C
NR_033949.1:n.1398G>C
NR_033950.1:n.1359G>C
NR_033951.1:n.1343G>C
NR_033952.1:n.1270G>C
NR_033953.1:n.1183G>C
NR_033954.1:n.1162G>C
NR_033955.1:n.1122G>C
NR_033956.1:n.1049G>C
XM_011538418.1:c.849G>C	XP_011536720.1:p.Lys283Asn
XM_011538419.1:c.804G>C	XP_011536721.1:p.Lys268Asn
XM_011538420.1:c.249G>C	XP_011536722.1:p.Lys83Asn
XR_945459.1:n.190-14957C>G
XR_945460.1:n.299-14957C>G
XM_011538419.3:c.804G>C	XP_011536721.1:p.Lys268Asn
XM_011538420.3:c.249G>C	XP_011536722.1:p.Lys83Asn
XM_017019364.2:c.756G>C	XP_016874853.1:p.Lys252Asn
XM_017019365.2:c.756G>C	XP_016874854.1:p.Lys252Asn
XM_017019366.2:c.363G>C	XP_016874855.1:p.Lys121Asn
XM_017019367.2:c.363G>C	XP_016874856.1:p.Lys121Asn
XR_001749352.2:n.186+26124C>G
XR_001749353.2:n.304-14957C>G
XR_001749354.2:n.186+26124C>G
XR_945459.3:n.187-14957C>G
XR_945460.3:n.299-14957C>G
NM_002562.6:c.1116G>C MANE Select	NP_002553.3:p.Lys372Asn
NR_033948.2:n.1434G>C
NR_033949.2:n.1350G>C
NR_033950.2:n.1311G>C
NR_033951.2:n.1295G>C
NR_033952.2:n.1222G>C
NR_033953.2:n.1126G>C
NR_033954.2:n.1114G>C
NR_033955.2:n.1074G>C
NR_033956.2:n.1001G>C