Canonical Allele Identifier: CA327222380

Gene: CTPS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.16691598G>T , CM000685.2:g.16691598G>T	GRCh38
NC_000023.10:g.16709721G>T , CM000685.1:g.16709721G>T	GRCh37
NC_000023.9:g.16619642G>T	NCBI36
NG_013229.1:g.26339C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_175859.3:c.662C>A MANE Select	NP_787055.1:p.Pro221His
ENST00000359276.9:c.662C>A MANE Select	ENSP00000352222.4:p.Pro221His
NM_001144002.1:c.662C>A	NP_001137474.1:p.Pro221His
NM_001144002.2:c.662C>A	NP_001137474.1:p.Pro221His
NM_019857.4:c.662C>A	NP_062831.3:p.Pro221His
NM_019857.5:c.662C>A	NP_062831.3:p.Pro221His
NM_175859.2:c.662C>A	NP_787055.1:p.Pro221His
ENST00000359276.8:c.662C>A	ENSP00000352222.4:p.Pro221His
ENST00000380241.7:c.662C>A	ENSP00000369590.3:p.Pro221His
ENST00000443824.5:c.662C>A	ENSP00000401264.1:p.Pro221His
XM_005274562.2:c.662C>A	XP_005274619.1:p.Pro221His
XM_005274562.3:c.662C>A	XP_005274619.1:p.Pro221His
XM_006724503.2:c.662C>A	XP_006724566.1:p.Pro221His
XM_006724503.3:c.662C>A	XP_006724566.1:p.Pro221His
XM_011545545.1:c.788C>A	XP_011543847.1:p.Pro263His
XM_011545545.2:c.788C>A	XP_011543847.1:p.Pro263His
XM_011545546.1:c.662C>A	XP_011543848.1:p.Pro221His
XM_024452408.1:c.662C>A	XP_024308176.1:p.Pro221His
XM_024452409.1:c.662C>A	XP_024308177.1:p.Pro221His
XR_002958784.1:n.1036C>A