Canonical Allele Identifier: CA411809889
Community Standard Title: NM_001184970.3(PACSIN2):c.1360A>T (p.Thr454Ser)
Gene: PACSIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42871458T>A , CM000684.2:g.42871458T>A GRCh38
NC_000022.10:g.43267464T>A , CM000684.1:g.43267464T>A GRCh37
NC_000022.9:g.41597408T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001184970.3:c.1360A>T MANE Select NP_001171899.1:p.Thr454Ser
ENST00000263246.8:c.1360A>T MANE Select ENSP00000263246.3:p.Thr454Ser
NM_001184970.1:c.1360A>T NP_001171899.1:p.Thr454Ser
NM_001184970.2:c.1360A>T NP_001171899.1:p.Thr454Ser
NM_001184971.1:c.1237A>T NP_001171900.1:p.Thr413Ser
NM_001349968.1:c.1243A>T NP_001336897.1:p.Thr415Ser
NM_001349969.1:c.1366A>T NP_001336898.1:p.Thr456Ser
NM_001349969.2:c.1366A>T NP_001336898.1:p.Thr456Ser
NM_001349970.1:c.1366A>T NP_001336899.1:p.Thr456Ser
NM_001349970.2:c.1366A>T NP_001336899.1:p.Thr456Ser
NM_001349971.1:c.1243A>T NP_001336900.1:p.Thr415Ser
NM_001349971.2:c.1243A>T NP_001336900.1:p.Thr415Ser
NM_001349972.1:c.1243A>T NP_001336901.1:p.Thr415Ser
NM_001349973.1:c.1243A>T NP_001336902.1:p.Thr415Ser
NM_001349974.1:c.1120A>T NP_001336903.1:p.Thr374Ser
NM_001349974.2:c.1120A>T NP_001336903.1:p.Thr374Ser
NM_007229.3:c.1360A>T NP_009160.2:p.Thr454Ser
ENST00000263246.7:c.1360A>T ENSP00000263246.3:p.Thr454Ser
ENST00000337959.8:c.1237A>T ENSP00000338379.4:p.Thr413Ser
ENST00000402229.5:c.1360A>T ENSP00000385040.1:p.Thr454Ser
ENST00000403744.7:c.1360A>T ENSP00000385372.3:p.Thr454Ser
ENST00000407585.5:c.1237A>T ENSP00000385952.1:p.Thr413Ser
ENST00000507586.1:c.71+4679A>T
XM_005261319.3:c.1237A>T XP_005261376.1:p.Thr413Ser
XM_005261319.4:c.1237A>T XP_005261376.1:p.Thr413Ser
XM_011529846.1:c.1366A>T XP_011528148.1:p.Thr456Ser
XM_011529847.1:c.1366A>T XP_011528149.1:p.Thr456Ser
XM_011529847.3:c.1366A>T XP_011528149.1:p.Thr456Ser
XM_011529848.1:c.1366A>T XP_011528150.1:p.Thr456Ser
XM_011529848.2:c.1366A>T XP_011528150.1:p.Thr456Ser
XM_011529849.1:c.1366A>T XP_011528151.1:p.Thr456Ser
XM_011529849.3:c.1366A>T XP_011528151.1:p.Thr456Ser
XM_011529850.1:c.1366A>T XP_011528152.1:p.Thr456Ser
XM_011529850.3:c.1366A>T XP_011528152.1:p.Thr456Ser
XM_011529851.1:c.1366A>T XP_011528153.1:p.Thr456Ser
XM_011529852.1:c.1243A>T XP_011528154.1:p.Thr415Ser
XM_011529852.2:c.1243A>T XP_011528154.1:p.Thr415Ser
XM_011529853.1:c.1243A>T XP_011528155.1:p.Thr415Ser
XM_017028562.2:c.1366A>T XP_016884051.1:p.Thr456Ser
XM_017028563.1:c.1366A>T XP_016884052.1:p.Thr456Ser
XM_017028564.2:c.1360A>T XP_016884053.1:p.Thr454Ser
XR_001755575.1:n.45T>A
XR_244440.2:n.45T>A
XR_244440.3:n.184T>A