Canonical Allele Identifier: CA12050278

Gene: SPEF2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35803475C>T , CM000667.2:g.35803475C>T	GRCh38
NC_000005.9:g.35803577C>T , CM000667.1:g.35803577C>T	GRCh37
NC_000005.8:g.35839334C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356031.8:c.5011-3232C>T MANE Select	ENSP00000348314.3:n.5011-3232C>T
ENST00000637061.1:c.1151-3232C>T
ENST00000356031.7:c.5011-3232C>T	ENSP00000348314.3:n.5011-3232C>T
ENST00000440995.6:c.4996-3232C>T	ENSP00000412125.2:n.4996-3232C>T
ENST00000506526.5:c.2630-3232C>T
ENST00000513078.1:c.1626-3232C>T
NM_024867.3:c.5011-3232C>T	NP_079143.3:n.5011-3232C>T
XM_005248376.3:c.5011-3232C>T	XP_005248433.1:n.5011-3232C>T
XM_005248377.2:c.4996-3232C>T	XP_005248434.1:n.4996-3232C>T
XM_011514135.1:c.5833-3232C>T	XP_011512437.1:n.5833-3232C>T
XM_011514136.1:c.5833-3232C>T	XP_011512438.1:n.5833-3232C>T
XM_011514137.1:c.5818-3232C>T	XP_011512439.1:n.5818-3232C>T
XM_011514138.1:c.5809-3232C>T	XP_011512440.1:n.5809-3232C>T
XM_011514139.1:c.5758-3232C>T	XP_011512441.1:n.5758-3232C>T
XM_011514140.1:c.5662-3232C>T	XP_011512442.1:n.5662-3232C>T
XM_011514141.1:c.5407-3232C>T	XP_011512443.1:n.5407-3232C>T
XM_011514142.1:c.4987-3232C>T	XP_011512444.1:n.4987-3232C>T
XM_011514143.1:c.2398-3232C>T	XP_011512445.1:n.2398-3232C>T
XR_925656.1:n.6893-3232C>T
XM_005248376.4:c.5011-3232C>T	XP_005248433.1:n.5011-3232C>T
XM_005248377.4:c.4996-3232C>T	XP_005248434.1:n.4996-3232C>T
XM_011514135.3:c.5833-3232C>T	XP_011512437.1:n.5833-3232C>T
XM_011514136.3:c.5833-3232C>T	XP_011512438.1:n.5833-3232C>T
XM_011514137.3:c.5818-3232C>T	XP_011512439.1:n.5818-3232C>T
XM_011514138.3:c.5809-3232C>T	XP_011512440.1:n.5809-3232C>T
XM_011514139.3:c.5758-3232C>T	XP_011512441.1:n.5758-3232C>T
XM_011514140.2:c.5662-3232C>T	XP_011512442.1:n.5662-3232C>T
XM_011514141.3:c.5407-3232C>T	XP_011512443.1:n.5407-3232C>T
XM_017009880.2:c.5647-3232C>T	XP_016865369.1:n.5647-3232C>T
XM_017009881.2:c.5407-3232C>T	XP_016865370.1:n.5407-3232C>T
XM_024446219.1:c.4765-3232C>T	XP_024301987.1:n.4765-3232C>T
XR_001742634.1:n.1703+50845G>A
XR_001742635.1:n.1600+50845G>A
XR_925656.3:n.6781-3232C>T
NM_024867.4:c.5011-3232C>T MANE Select	NP_079143.3:n.5011-3232C>T