Canonical Allele Identifier: CA4459532

Gene: CADPS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.122438360T>G , CM000669.2:g.122438360T>G	GRCh38
NC_000007.13:g.122078414T>G , CM000669.1:g.122078414T>G	GRCh37
NC_000007.12:g.121865650T>G	NCBI36
NG_016215.1:g.453400A>C
NG_016215.2:g.453400A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449022.7:c.2457A>C MANE Select	ENSP00000398481.2:p.Thr819=
ENST00000313070.11:c.2139A>C	ENSP00000325581.8:p.Thr713=
ENST00000334010.11:c.2460A>C	ENSP00000333940.7:p.Thr820=
ENST00000397721.4:c.1393A>C
ENST00000412584.6:c.2448A>C	ENSP00000400401.2:p.Thr816=
ENST00000449022.6:c.2457A>C	ENSP00000398481.2:p.Thr819=
ENST00000462699.5:c.17A>C
ENST00000615869.4:c.2460A>C	ENSP00000484355.1:p.Thr820=
NM_001009571.3:c.2448A>C	NP_001009571.2:p.Thr816=
NM_001167940.1:c.2457A>C	NP_001161412.1:p.Thr819=
NM_017954.10:c.2457A>C	NP_060424.9:p.Thr819=
XM_005250695.3:c.2457A>C	XP_005250752.1:p.Thr819=
XM_005250696.3:c.2457A>C	XP_005250753.1:p.Thr819=
XM_005250697.3:c.2448A>C	XP_005250754.1:p.Thr816=
XM_005250698.3:c.2457A>C	XP_005250755.1:p.Thr819=
XM_005250699.3:c.2457A>C	XP_005250756.1:p.Thr819=
XM_005250700.3:c.2448A>C	XP_005250757.1:p.Thr816=
XM_005250701.3:c.2457A>C	XP_005250758.1:p.Thr819=
XM_005250702.3:c.2448A>C	XP_005250759.1:p.Thr816=
XM_005250703.3:c.2457A>C	XP_005250760.1:p.Thr819=
XM_005250704.3:c.2457A>C	XP_005250761.1:p.Thr819=
XM_005250705.3:c.2457A>C	XP_005250762.1:p.Thr819=
XM_005250706.3:c.2448A>C	XP_005250763.1:p.Thr816=
XM_005250707.3:c.2457A>C	XP_005250764.1:p.Thr819=
XM_005250708.2:c.2448A>C	XP_005250765.1:p.Thr816=
XM_011516695.1:c.2457A>C	XP_011514997.1:p.Thr819=
XM_011516696.1:c.2457A>C	XP_011514998.1:p.Thr819=
XM_011516697.1:c.2457A>C	XP_011514999.1:p.Thr819=
NM_001363389.1:c.2457A>C	NP_001350318.1:p.Thr819=
NM_001363390.1:c.2457A>C	NP_001350319.1:p.Thr819=
NM_001363391.1:c.2448A>C	NP_001350320.1:p.Thr816=
NM_001363392.1:c.2457A>C	NP_001350321.1:p.Thr819=
NM_001363393.1:c.2457A>C	NP_001350322.1:p.Thr819=
NM_001363394.1:c.2457A>C	NP_001350323.1:p.Thr819=
NM_001363395.1:c.2448A>C	NP_001350324.1:p.Thr816=
NM_001363396.1:c.2457A>C	NP_001350325.1:p.Thr819=
NM_001363397.1:c.2457A>C	NP_001350326.1:p.Thr819=
NM_001363398.1:c.2448A>C	NP_001350327.1:p.Thr816=
NM_001363399.1:c.1974A>C	NP_001350328.1:p.Thr658=
NM_001363400.1:c.1974A>C	NP_001350329.1:p.Thr658=
XM_005250696.5:c.2457A>C	XP_005250753.1:p.Thr819=
XM_005250697.5:c.2448A>C	XP_005250754.1:p.Thr816=
XM_005250699.5:c.2457A>C	XP_005250756.1:p.Thr819=
XM_005250701.5:c.2457A>C	XP_005250758.1:p.Thr819=
XM_005250702.5:c.2448A>C	XP_005250759.1:p.Thr816=
XM_005250704.5:c.2457A>C	XP_005250761.1:p.Thr819=
XM_005250706.5:c.2448A>C	XP_005250763.1:p.Thr816=
XM_005250707.5:c.2457A>C	XP_005250764.1:p.Thr819=
XM_017012794.2:c.2448A>C	XP_016868283.1:p.Thr816=
XM_017012796.2:c.1974A>C	XP_016868285.1:p.Thr658=
XM_017012798.2:c.1974A>C	XP_016868287.1:p.Thr658=
XM_024446998.1:c.1344A>C	XP_024302766.1:p.Thr448=
NM_017954.11:c.2457A>C MANE Select	NP_060424.9:p.Thr819=
NM_001009571.4:c.2448A>C	NP_001009571.2:p.Thr816=
NM_001167940.2:c.2457A>C	NP_001161412.1:p.Thr819=
NM_001363389.2:c.2457A>C	NP_001350318.1:p.Thr819=
NM_001363390.2:c.2457A>C	NP_001350319.1:p.Thr819=
NM_001363391.2:c.2448A>C	NP_001350320.1:p.Thr816=
NM_001363392.2:c.2457A>C	NP_001350321.1:p.Thr819=
NM_001363393.2:c.2457A>C	NP_001350322.1:p.Thr819=
NM_001363394.2:c.2457A>C	NP_001350323.1:p.Thr819=
NM_001363395.2:c.2448A>C	NP_001350324.1:p.Thr816=
NM_001363396.2:c.2457A>C	NP_001350325.1:p.Thr819=
NM_001363397.2:c.2457A>C	NP_001350326.1:p.Thr819=
NM_001363398.2:c.2448A>C	NP_001350327.1:p.Thr816=
NM_001363399.2:c.1974A>C	NP_001350328.1:p.Thr658=
NM_001363400.2:c.1974A>C	NP_001350329.1:p.Thr658=