Canonical Allele Identifier: CA386942598

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121570871T>C (hg19) ; chr12:g.121133068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121133068T>C , CM000674.2:g.121133068T>C	GRCh38
NC_000012.11:g.121570871T>C , CM000674.1:g.121570871T>C	GRCh37
NC_000012.10:g.120055254T>C	NCBI36
NG_011471.2:g.5194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.98T>C MANE Select	ENSP00000330696.6:p.Phe33Ser
ENST00000261826.10:c.98T>C	ENSP00000261826.6:p.Phe33Ser
ENST00000328963.9:c.98T>C	ENSP00000330696.6:p.Phe33Ser
ENST00000535250.5:c.98T>C	ENSP00000442572.2:p.Phe33Ser
ENST00000535600.2:c.98T>C	ENSP00000442470.1:p.Phe33Ser
ENST00000535928.5:c.98T>C	ENSP00000439961.1:p.Phe33Ser
ENST00000537312.5:c.98T>C	ENSP00000438586.1:p.Phe33Ser
ENST00000538011.5:c.98T>C	ENSP00000439247.1:p.Phe33Ser
ENST00000539606.5:c.98T>C	ENSP00000445325.1:p.Phe33Ser
ENST00000539695.5:n.167T>C
ENST00000541022.5:c.98T>C	ENSP00000441230.1:p.Phe33Ser
ENST00000541564.5:c.98T>C	ENSP00000443640.1:p.Phe33Ser
ENST00000541716.5:c.98T>C	ENSP00000437729.1:p.Phe33Ser
ENST00000545434.5:c.98T>C	ENSP00000445564.1:p.Phe33Ser
NM_002562.5:c.98T>C	NP_002553.3:p.Phe33Ser
NR_033948.1:n.241T>C
NR_033949.1:n.241T>C
NR_033950.1:n.241T>C
NR_033951.1:n.241T>C
NR_033952.1:n.241T>C
NR_033953.1:n.250T>C
NR_033954.1:n.241T>C
NR_033955.1:n.241T>C
NR_033956.1:n.241T>C
XM_011538418.1:c.98T>C	XP_011536720.1:p.Phe33Ser
XM_011538419.1:c.-46T>C	XP_011536721.1:n.-46T>C
XM_011538420.1:c.-464T>C	XP_011536722.1:n.-464T>C
XM_011538419.3:c.-46T>C	XP_011536721.1:n.-46T>C
XM_011538420.3:c.-464T>C	XP_011536722.1:n.-464T>C
XM_017019364.2:c.-416T>C	XP_016874853.1:n.-416T>C
XM_017019365.2:c.-247T>C	XP_016874854.1:n.-247T>C
XM_017019366.2:c.-583T>C	XP_016874855.1:n.-583T>C
XM_017019367.2:c.-414T>C	XP_016874856.1:n.-414T>C
XR_001749352.2:n.187-6227A>G
XR_001749354.2:n.187-6227A>G
NM_002562.6:c.98T>C MANE Select	NP_002553.3:p.Phe33Ser
NR_033948.2:n.193T>C
NR_033949.2:n.193T>C
NR_033950.2:n.193T>C
NR_033951.2:n.193T>C
NR_033952.2:n.193T>C
NR_033953.2:n.193T>C
NR_033954.2:n.193T>C
NR_033955.2:n.193T>C
NR_033956.2:n.193T>C