Canonical Allele Identifier: CA3230191

Gene: SPEF2

Linked Data

• ClinVar Variation Id: 403472
• ClinVar RCV Id: RCV000455722 ; RCV001618703 ; RCV001808834
• dbSNP Id: rs7706444
• ExAC: 5:35644621 T / C
• gnomAD v2: 5-35644621-T-C
• gnomAD v3: 5-35644519-T-C
• gnomAD v4: 5-35644519-T-C
• MyVariant Identifiers: chr5:g.35644621T>C (hg19) ; chr5:g.35644519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.35644519T>C , CM000667.2:g.35644519T>C	GRCh38
NC_000005.9:g.35644621T>C , CM000667.1:g.35644621T>C	GRCh37
NC_000005.8:g.35680378T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356031.8:c.579T>C MANE Select	ENSP00000348314.3:p.Ile193=
ENST00000637569.1:c.579T>C	ENSP00000490886.1:p.Ile193=
ENST00000282469.10:c.579T>C	ENSP00000282469.6:p.Ile193=
ENST00000356031.7:c.579T>C	ENSP00000348314.3:p.Ile193=
ENST00000440995.6:c.579T>C	ENSP00000412125.2:p.Ile193=
ENST00000509059.5:c.579T>C	ENSP00000421593.1:p.Ile193=
ENST00000510777.5:c.415-2148T>C	ENSP00000426259.1:n.415-2148T>C
NM_024867.3:c.579T>C	NP_079143.3:p.Ile193=
NM_144722.3:c.579T>C	NP_653323.1:p.Ile193=
XM_005248376.3:c.579T>C	XP_005248433.1:p.Ile193=
XM_005248377.2:c.579T>C	XP_005248434.1:p.Ile193=
XM_005248378.2:c.579T>C	XP_005248435.1:p.Ile193=
XM_006714501.2:c.579T>C	XP_006714564.1:p.Ile193=
XM_011514135.1:c.579T>C	XP_011512437.1:p.Ile193=
XM_011514136.1:c.579T>C	XP_011512438.1:p.Ile193=
XM_011514137.1:c.579T>C	XP_011512439.1:p.Ile193=
XM_011514138.1:c.579T>C	XP_011512440.1:p.Ile193=
XM_011514139.1:c.579T>C	XP_011512441.1:p.Ile193=
XM_011514140.1:c.415-2148T>C	XP_011512442.1:n.415-2148T>C
XM_011514141.1:c.153T>C	XP_011512443.1:p.Ile51=
XM_011514142.1:c.579T>C	XP_011512444.1:p.Ile193=
XR_925655.1:n.795T>C
XR_925656.1:n.794T>C
XM_005248376.4:c.579T>C	XP_005248433.1:p.Ile193=
XM_005248377.4:c.579T>C	XP_005248434.1:p.Ile193=
XM_005248378.4:c.579T>C	XP_005248435.1:p.Ile193=
XM_011514135.3:c.579T>C	XP_011512437.1:p.Ile193=
XM_011514136.3:c.579T>C	XP_011512438.1:p.Ile193=
XM_011514137.3:c.579T>C	XP_011512439.1:p.Ile193=
XM_011514138.3:c.579T>C	XP_011512440.1:p.Ile193=
XM_011514139.3:c.579T>C	XP_011512441.1:p.Ile193=
XM_011514140.2:c.415-2148T>C	XP_011512442.1:n.415-2148T>C
XM_011514141.3:c.153T>C	XP_011512443.1:p.Ile51=
XM_017009880.2:c.415-2148T>C	XP_016865369.1:n.415-2148T>C
XM_017009881.2:c.153T>C	XP_016865370.1:p.Ile51=
XM_017009882.2:c.579T>C	XP_016865371.1:p.Ile193=
XM_024446219.1:c.415-2148T>C	XP_024301987.1:n.415-2148T>C
XR_001742273.2:n.682T>C
XR_925655.2:n.682T>C
XR_925656.3:n.682T>C
NM_024867.4:c.579T>C MANE Select	NP_079143.3:p.Ile193=
NM_144722.4:c.579T>C	NP_653323.1:p.Ile193=