Canonical Allele Identifier: CA1221186572

Gene: GPATCH2

Linked Data

• dbSNP Id: rs1000491447

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.217544690C>A , CM000663.2:g.217544690C>A	GRCh38
NC_000001.10:g.217718032C>A , CM000663.1:g.217718032C>A	GRCh37
NC_000001.9:g.215784655C>A	NCBI36
NG_053034.1:g.91413G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366935.8:c.1099-29801G>T MANE Select	ENSP00000355902.3:n.1099-29801G>T
ENST00000366935.7:c.1099-29801G>T	ENSP00000355902.3:n.1099-29801G>T
ENST00000470014.6:n.81-29801G>T
ENST00000485274.1:n.60-29801G>T
NM_018040.3:c.1099-29801G>T	NP_060510.1:n.1099-29801G>T
XM_011509689.1:c.1099-29801G>T	XP_011507991.1:n.1099-29801G>T
XM_011509690.1:c.1099-29801G>T	XP_011507992.1:n.1099-29801G>T
XM_011509691.1:c.916-29801G>T	XP_011507993.1:n.916-29801G>T
XM_011509692.1:c.1099-29801G>T	XP_011507994.1:n.1099-29801G>T
XM_011509693.1:c.1099-29801G>T	XP_011507995.1:n.1099-29801G>T
XR_247030.2:n.1212-29801G>T
XR_921856.1:n.1212-29801G>T
XR_921857.1:n.1212-29801G>T
XR_921858.1:n.1212-29801G>T
XR_921859.1:n.1212-29801G>T
NM_018040.4:c.1099-29801G>T	NP_060510.1:n.1099-29801G>T
XM_011509689.3:c.1099-29801G>T	XP_011507991.1:n.1099-29801G>T
XM_011509690.3:c.1099-29801G>T	XP_011507992.1:n.1099-29801G>T
XM_011509691.3:c.916-29801G>T	XP_011507993.1:n.916-29801G>T
XM_011509693.3:c.1099-29801G>T	XP_011507995.1:n.1099-29801G>T
XM_017001592.2:c.1099-29801G>T	XP_016857081.1:n.1099-29801G>T
XM_017001593.2:c.1099-29801G>T	XP_016857082.1:n.1099-29801G>T
XR_247030.4:n.1212-29801G>T
XR_921856.3:n.1212-29801G>T
XR_921858.3:n.1212-29801G>T
NM_018040.5:c.1099-29801G>T MANE Select	NP_060510.1:n.1099-29801G>T