Canonical Allele Identifier: CA386942270

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121133007-T-C
• MyVariant Identifiers: chr12:g.121570810T>C (hg19) ; chr12:g.121133007T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121133007T>C , CM000674.2:g.121133007T>C	GRCh38
NC_000012.11:g.121570810T>C , CM000674.1:g.121570810T>C	GRCh37
NC_000012.10:g.120055193T>C	NCBI36
NG_011471.2:g.5133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.37T>C MANE Select	ENSP00000330696.6:p.Tyr13His
ENST00000261826.10:c.37T>C	ENSP00000261826.6:p.Tyr13His
ENST00000328963.9:c.37T>C	ENSP00000330696.6:p.Tyr13His
ENST00000535250.5:c.37T>C	ENSP00000442572.2:p.Tyr13His
ENST00000535600.2:c.37T>C	ENSP00000442470.1:p.Tyr13His
ENST00000535928.5:c.37T>C	ENSP00000439961.1:p.Tyr13His
ENST00000537312.5:c.37T>C	ENSP00000438586.1:p.Tyr13His
ENST00000538011.5:c.37T>C	ENSP00000439247.1:p.Tyr13His
ENST00000539606.5:c.37T>C	ENSP00000445325.1:p.Tyr13His
ENST00000539695.5:n.106T>C
ENST00000541022.5:c.37T>C	ENSP00000441230.1:p.Tyr13His
ENST00000541564.5:c.37T>C	ENSP00000443640.1:p.Tyr13His
ENST00000541716.5:c.37T>C	ENSP00000437729.1:p.Tyr13His
ENST00000545434.5:c.37T>C	ENSP00000445564.1:p.Tyr13His
NM_002562.5:c.37T>C	NP_002553.3:p.Tyr13His
NR_033948.1:n.180T>C
NR_033949.1:n.180T>C
NR_033950.1:n.180T>C
NR_033951.1:n.180T>C
NR_033952.1:n.180T>C
NR_033953.1:n.189T>C
NR_033954.1:n.180T>C
NR_033955.1:n.180T>C
NR_033956.1:n.180T>C
XM_011538418.1:c.37T>C	XP_011536720.1:p.Tyr13His
XM_011538419.1:c.-107T>C	XP_011536721.1:n.-107T>C
XM_011538419.3:c.-107T>C	XP_011536721.1:n.-107T>C
XM_017019364.2:c.-477T>C	XP_016874853.1:n.-477T>C
XM_017019365.2:c.-308T>C	XP_016874854.1:n.-308T>C
XM_017019366.2:c.-644T>C	XP_016874855.1:n.-644T>C
XM_017019367.2:c.-475T>C	XP_016874856.1:n.-475T>C
XR_001749352.2:n.187-6166A>G
XR_001749354.2:n.187-6166A>G
NM_002562.6:c.37T>C MANE Select	NP_002553.3:p.Tyr13His
NR_033948.2:n.132T>C
NR_033949.2:n.132T>C
NR_033950.2:n.132T>C
NR_033951.2:n.132T>C
NR_033952.2:n.132T>C
NR_033953.2:n.132T>C
NR_033954.2:n.132T>C
NR_033955.2:n.132T>C
NR_033956.2:n.132T>C