Canonical Allele Identifier: CA3230599

Gene: SPEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35692673T>A , CM000667.2:g.35692673T>A	GRCh38
NC_000005.9:g.35692775T>A , CM000667.1:g.35692775T>A	GRCh37
NC_000005.8:g.35728532T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356031.8:c.1848T>A MANE Select	ENSP00000348314.3:p.Asn616Lys
ENST00000637569.1:c.1848T>A	ENSP00000490886.1:p.Asn616Lys
ENST00000356031.7:c.1848T>A	ENSP00000348314.3:p.Asn616Lys
ENST00000440995.6:c.1848T>A	ENSP00000412125.2:p.Asn616Lys
ENST00000503074.1:n.839T>A
ENST00000504054.1:c.381T>A	ENSP00000421744.1:p.Asn127Lys
ENST00000509059.5:c.1848T>A	ENSP00000421593.1:p.Asn616Lys
NM_024867.3:c.1848T>A	NP_079143.3:p.Asn616Lys
XM_005248376.3:c.1848T>A	XP_005248433.1:p.Asn616Lys
XM_005248377.2:c.1848T>A	XP_005248434.1:p.Asn616Lys
XM_005248378.2:c.1848T>A	XP_005248435.1:p.Asn616Lys
XM_006714501.2:c.1848T>A	XP_006714564.1:p.Asn616Lys
XM_011514135.1:c.1848T>A	XP_011512437.1:p.Asn616Lys
XM_011514136.1:c.1848T>A	XP_011512438.1:p.Asn616Lys
XM_011514137.1:c.1848T>A	XP_011512439.1:p.Asn616Lys
XM_011514138.1:c.1848T>A	XP_011512440.1:p.Asn616Lys
XM_011514139.1:c.1848T>A	XP_011512441.1:p.Asn616Lys
XM_011514140.1:c.1677T>A	XP_011512442.1:p.Asn559Lys
XM_011514141.1:c.1422T>A	XP_011512443.1:p.Asn474Lys
XM_011514142.1:c.1848T>A	XP_011512444.1:p.Asn616Lys
XR_925655.1:n.2064T>A
XR_925656.1:n.2063T>A
XM_005248376.4:c.1848T>A	XP_005248433.1:p.Asn616Lys
XM_005248377.4:c.1848T>A	XP_005248434.1:p.Asn616Lys
XM_005248378.4:c.1848T>A	XP_005248435.1:p.Asn616Lys
XM_011514135.3:c.1848T>A	XP_011512437.1:p.Asn616Lys
XM_011514136.3:c.1848T>A	XP_011512438.1:p.Asn616Lys
XM_011514137.3:c.1848T>A	XP_011512439.1:p.Asn616Lys
XM_011514138.3:c.1848T>A	XP_011512440.1:p.Asn616Lys
XM_011514139.3:c.1848T>A	XP_011512441.1:p.Asn616Lys
XM_011514140.2:c.1677T>A	XP_011512442.1:p.Asn559Lys
XM_011514141.3:c.1422T>A	XP_011512443.1:p.Asn474Lys
XM_017009880.2:c.1677T>A	XP_016865369.1:p.Asn559Lys
XM_017009881.2:c.1422T>A	XP_016865370.1:p.Asn474Lys
XM_017009882.2:c.1848T>A	XP_016865371.1:p.Asn616Lys
XM_024446219.1:c.1677T>A	XP_024301987.1:p.Asn559Lys
XR_001742273.2:n.1951T>A
XR_001742634.1:n.1781+5285A>T
XR_001742635.1:n.1678+5285A>T
XR_001742636.1:n.1868+5285A>T
XR_925655.2:n.1951T>A
XR_925656.3:n.1951T>A
NM_024867.4:c.1848T>A MANE Select	NP_079143.3:p.Asn616Lys