Canonical Allele Identifier: CA38205251

Gene: GPATCH2

Linked Data

• dbSNP Id: rs956035063
• gnomAD v2: 1-217718051-G-T
• gnomAD v3: 1-217544709-G-T
• gnomAD v4: 1-217544709-G-T
• MyVariant Identifiers: chr1:g.217718051G>T (hg19) ; chr1:g.217544709G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.217544709G>T , CM000663.2:g.217544709G>T	GRCh38
NC_000001.10:g.217718051G>T , CM000663.1:g.217718051G>T	GRCh37
NC_000001.9:g.215784674G>T	NCBI36
NG_053034.1:g.91394C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366935.8:c.1099-29820C>A MANE Select	ENSP00000355902.3:n.1099-29820C>A
ENST00000366935.7:c.1099-29820C>A	ENSP00000355902.3:n.1099-29820C>A
ENST00000470014.6:n.81-29820C>A
ENST00000485274.1:n.60-29820C>A
NM_018040.3:c.1099-29820C>A	NP_060510.1:n.1099-29820C>A
XM_011509689.1:c.1099-29820C>A	XP_011507991.1:n.1099-29820C>A
XM_011509690.1:c.1099-29820C>A	XP_011507992.1:n.1099-29820C>A
XM_011509691.1:c.916-29820C>A	XP_011507993.1:n.916-29820C>A
XM_011509692.1:c.1099-29820C>A	XP_011507994.1:n.1099-29820C>A
XM_011509693.1:c.1099-29820C>A	XP_011507995.1:n.1099-29820C>A
XR_247030.2:n.1212-29820C>A
XR_921856.1:n.1212-29820C>A
XR_921857.1:n.1212-29820C>A
XR_921858.1:n.1212-29820C>A
XR_921859.1:n.1212-29820C>A
NM_018040.4:c.1099-29820C>A	NP_060510.1:n.1099-29820C>A
XM_011509689.3:c.1099-29820C>A	XP_011507991.1:n.1099-29820C>A
XM_011509690.3:c.1099-29820C>A	XP_011507992.1:n.1099-29820C>A
XM_011509691.3:c.916-29820C>A	XP_011507993.1:n.916-29820C>A
XM_011509693.3:c.1099-29820C>A	XP_011507995.1:n.1099-29820C>A
XM_017001592.2:c.1099-29820C>A	XP_016857081.1:n.1099-29820C>A
XM_017001593.2:c.1099-29820C>A	XP_016857082.1:n.1099-29820C>A
XR_247030.4:n.1212-29820C>A
XR_921856.3:n.1212-29820C>A
XR_921858.3:n.1212-29820C>A
NM_018040.5:c.1099-29820C>A MANE Select	NP_060510.1:n.1099-29820C>A