Canonical Allele Identifier: CA1539052167

Gene: SPEF2

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35799892A>T , CM000667.2:g.35799892A>T	GRCh38
NC_000005.9:g.35799994A>T , CM000667.1:g.35799994A>T	GRCh37
NC_000005.8:g.35835751A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356031.8:c.4831-76A>T MANE Select	ENSP00000348314.3:n.4831-76A>T
ENST00000637061.1:c.971-76A>T
ENST00000356031.7:c.4831-76A>T	ENSP00000348314.3:n.4831-76A>T
ENST00000440995.6:c.4816-76A>T	ENSP00000412125.2:n.4816-76A>T
ENST00000506526.5:c.2450-76A>T
ENST00000513078.1:c.1446-76A>T
NM_024867.3:c.4831-76A>T	NP_079143.3:n.4831-76A>T
XM_005248376.3:c.4831-76A>T	XP_005248433.1:n.4831-76A>T
XM_005248377.2:c.4816-76A>T	XP_005248434.1:n.4816-76A>T
XM_011514135.1:c.5653-76A>T	XP_011512437.1:n.5653-76A>T
XM_011514136.1:c.5653-76A>T	XP_011512438.1:n.5653-76A>T
XM_011514137.1:c.5638-76A>T	XP_011512439.1:n.5638-76A>T
XM_011514138.1:c.5629-76A>T	XP_011512440.1:n.5629-76A>T
XM_011514139.1:c.5578-76A>T	XP_011512441.1:n.5578-76A>T
XM_011514140.1:c.5482-76A>T	XP_011512442.1:n.5482-76A>T
XM_011514141.1:c.5227-76A>T	XP_011512443.1:n.5227-76A>T
XM_011514142.1:c.4807-76A>T	XP_011512444.1:n.4807-76A>T
XM_011514143.1:c.2218-76A>T	XP_011512445.1:n.2218-76A>T
XR_925656.1:n.6713-76A>T
XM_005248376.4:c.4831-76A>T	XP_005248433.1:n.4831-76A>T
XM_005248377.4:c.4816-76A>T	XP_005248434.1:n.4816-76A>T
XM_011514135.3:c.5653-76A>T	XP_011512437.1:n.5653-76A>T
XM_011514136.3:c.5653-76A>T	XP_011512438.1:n.5653-76A>T
XM_011514137.3:c.5638-76A>T	XP_011512439.1:n.5638-76A>T
XM_011514138.3:c.5629-76A>T	XP_011512440.1:n.5629-76A>T
XM_011514139.3:c.5578-76A>T	XP_011512441.1:n.5578-76A>T
XM_011514140.2:c.5482-76A>T	XP_011512442.1:n.5482-76A>T
XM_011514141.3:c.5227-76A>T	XP_011512443.1:n.5227-76A>T
XM_017009880.2:c.5467-76A>T	XP_016865369.1:n.5467-76A>T
XM_017009881.2:c.5227-76A>T	XP_016865370.1:n.5227-76A>T
XM_024446219.1:c.4585-76A>T	XP_024301987.1:n.4585-76A>T
XR_001742634.1:n.1703+54428T>A
XR_001742635.1:n.1600+54428T>A
XR_925656.3:n.6601-76A>T
NM_024867.4:c.4831-76A>T MANE Select	NP_079143.3:n.4831-76A>T