Canonical Allele Identifier: CA12050269

Gene: SPEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35763866G>T , CM000667.2:g.35763866G>T	GRCh38
NC_000005.9:g.35763968G>T , CM000667.1:g.35763968G>T	GRCh37
NC_000005.8:g.35799725G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024867.4:c.3801+164G>T MANE Select	NP_079143.3:n.3801+164G>T
ENST00000356031.8:c.3801+164G>T MANE Select	ENSP00000348314.3:n.3801+164G>T
NM_024867.3:c.3801+164G>T	NP_079143.3:n.3801+164G>T
ENST00000356031.7:c.3801+164G>T	ENSP00000348314.3:n.3801+164G>T
ENST00000440995.6:c.3786+164G>T	ENSP00000412125.2:n.3786+164G>T
ENST00000506759.1:c.135+164G>T	ENSP00000422710.1:n.135+164G>T
ENST00000637569.1:c.3801+164G>T	ENSP00000490886.1:n.3801+164G>T
XM_005248376.3:c.3801+164G>T	XP_005248433.1:n.3801+164G>T
XM_005248376.4:c.3801+164G>T	XP_005248433.1:n.3801+164G>T
XM_005248377.2:c.3786+164G>T	XP_005248434.1:n.3786+164G>T
XM_005248377.4:c.3786+164G>T	XP_005248434.1:n.3786+164G>T
XM_006714501.2:c.3801+164G>T	XP_006714564.1:n.3801+164G>T
XM_011514135.1:c.3801+164G>T	XP_011512437.1:n.3801+164G>T
XM_011514135.3:c.3801+164G>T	XP_011512437.1:n.3801+164G>T
XM_011514136.1:c.3801+164G>T	XP_011512438.1:n.3801+164G>T
XM_011514136.3:c.3801+164G>T	XP_011512438.1:n.3801+164G>T
XM_011514137.1:c.3786+164G>T	XP_011512439.1:n.3786+164G>T
XM_011514137.3:c.3786+164G>T	XP_011512439.1:n.3786+164G>T
XM_011514138.1:c.3777+164G>T	XP_011512440.1:n.3777+164G>T
XM_011514138.3:c.3777+164G>T	XP_011512440.1:n.3777+164G>T
XM_011514139.1:c.3726+164G>T	XP_011512441.1:n.3726+164G>T
XM_011514139.3:c.3726+164G>T	XP_011512441.1:n.3726+164G>T
XM_011514140.1:c.3630+164G>T	XP_011512442.1:n.3630+164G>T
XM_011514140.2:c.3630+164G>T	XP_011512442.1:n.3630+164G>T
XM_011514141.1:c.3375+164G>T	XP_011512443.1:n.3375+164G>T
XM_011514141.3:c.3375+164G>T	XP_011512443.1:n.3375+164G>T
XM_011514142.1:c.3777+164G>T	XP_011512444.1:n.3777+164G>T
XM_011514143.1:c.366+164G>T	XP_011512445.1:n.366+164G>T
XM_017009880.2:c.3615+164G>T	XP_016865369.1:n.3615+164G>T
XM_017009881.2:c.3375+164G>T	XP_016865370.1:n.3375+164G>T
XM_024446219.1:c.3555+164G>T	XP_024301987.1:n.3555+164G>T
XR_001742273.2:n.3904+164G>T
XR_001742634.1:n.1704-65831C>A
XR_001742635.1:n.1601-65831C>A
XR_925655.1:n.4017+164G>T
XR_925655.2:n.3904+164G>T
XR_925656.1:n.4016+164G>T
XR_925656.3:n.3904+164G>T