Canonical Allele Identifier: CA3230298

Gene: SPEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35654609C>T , CM000667.2:g.35654609C>T	GRCh38
NC_000005.9:g.35654711C>T , CM000667.1:g.35654711C>T	GRCh37
NC_000005.8:g.35690468C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356031.8:c.861C>T MANE Select	ENSP00000348314.3:p.Asp287=
ENST00000637569.1:c.861C>T	ENSP00000490886.1:p.Asp287=
ENST00000282469.10:c.861C>T	ENSP00000282469.6:p.Asp287=
ENST00000356031.7:c.861C>T	ENSP00000348314.3:p.Asp287=
ENST00000440995.6:c.861C>T	ENSP00000412125.2:p.Asp287=
ENST00000502454.1:n.412C>T
ENST00000509059.5:c.861C>T	ENSP00000421593.1:p.Asp287=
ENST00000510777.5:c.690C>T	ENSP00000426259.1:p.Asp230=
NM_024867.3:c.861C>T	NP_079143.3:p.Asp287=
NM_144722.3:c.861C>T	NP_653323.1:p.Asp287=
XM_005248376.3:c.861C>T	XP_005248433.1:p.Asp287=
XM_005248377.2:c.861C>T	XP_005248434.1:p.Asp287=
XM_005248378.2:c.861C>T	XP_005248435.1:p.Asp287=
XM_006714501.2:c.861C>T	XP_006714564.1:p.Asp287=
XM_011514135.1:c.861C>T	XP_011512437.1:p.Asp287=
XM_011514136.1:c.861C>T	XP_011512438.1:p.Asp287=
XM_011514137.1:c.861C>T	XP_011512439.1:p.Asp287=
XM_011514138.1:c.861C>T	XP_011512440.1:p.Asp287=
XM_011514139.1:c.861C>T	XP_011512441.1:p.Asp287=
XM_011514140.1:c.690C>T	XP_011512442.1:p.Asp230=
XM_011514141.1:c.435C>T	XP_011512443.1:p.Asp145=
XM_011514142.1:c.861C>T	XP_011512444.1:p.Asp287=
XR_925655.1:n.1077C>T
XR_925656.1:n.1076C>T
XM_005248376.4:c.861C>T	XP_005248433.1:p.Asp287=
XM_005248377.4:c.861C>T	XP_005248434.1:p.Asp287=
XM_005248378.4:c.861C>T	XP_005248435.1:p.Asp287=
XM_011514135.3:c.861C>T	XP_011512437.1:p.Asp287=
XM_011514136.3:c.861C>T	XP_011512438.1:p.Asp287=
XM_011514137.3:c.861C>T	XP_011512439.1:p.Asp287=
XM_011514138.3:c.861C>T	XP_011512440.1:p.Asp287=
XM_011514139.3:c.861C>T	XP_011512441.1:p.Asp287=
XM_011514140.2:c.690C>T	XP_011512442.1:p.Asp230=
XM_011514141.3:c.435C>T	XP_011512443.1:p.Asp145=
XM_017009880.2:c.690C>T	XP_016865369.1:p.Asp230=
XM_017009881.2:c.435C>T	XP_016865370.1:p.Asp145=
XM_017009882.2:c.861C>T	XP_016865371.1:p.Asp287=
XM_024446219.1:c.690C>T	XP_024301987.1:p.Asp230=
XR_001742273.2:n.964C>T
XR_925655.2:n.964C>T
XR_925656.3:n.964C>T
NM_024867.4:c.861C>T MANE Select	NP_079143.3:p.Asp287=
NM_144722.4:c.861C>T	NP_653323.1:p.Asp287=