Canonical Allele Identifier: CA130144270

Gene: CYFIP2 FNDC9

Linked Data

• dbSNP Id: rs540171356
• COSMIC: COSM3246527
• MyVariant Identifiers: chr5:g.156770210G>A (hg19) ; chr5:g.157343202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157343202G>A , CM000667.2:g.157343202G>A	GRCh38
NC_000005.9:g.156770210G>A , CM000667.1:g.156770210G>A	GRCh37
NC_000005.8:g.156702788G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698888.1:c.2748+2045G>A (CYFIP2)	ENSP00000514007.1:n.2748+2045G>A
ENST00000312349.5:c.335C>T (FNDC9) MANE Select	ENSP00000310594.4:p.Ser112Phe
ENST00000519499.2:c.335C>T	ENSP00000496943.1:p.Ser112Phe
ENST00000620254.5:c.2673+2045G>A (CYFIP2) MANE Select	ENSP00000479968.1:n.2673+2045G>A
ENST00000312349.4:c.335C>T (FNDC9)	ENSP00000310594.4:p.Ser112Phe
ENST00000435847.6:c.2265+2045G>A (CYFIP2)	ENSP00000403793.3:n.2265+2045G>A
ENST00000520782.1:c.335C>T (FNDC9)	ENSP00000429434.1:p.Ser112Phe
ENST00000521420.5:c.2595+2045G>A (CYFIP2)	ENSP00000430904.1:n.2595+2045G>A
ENST00000522463.5:c.2085+2045G>A (CYFIP2)	ENSP00000428009.1:n.2085+2045G>A
ENST00000616178.4:c.2748+2045G>A (CYFIP2)	ENSP00000479719.1:n.2748+2045G>A
ENST00000618329.4:c.2673+2045G>A (CYFIP2)	ENSP00000484819.1:n.2673+2045G>A
ENST00000620254.4:c.2673+2045G>A (CYFIP2)	ENSP00000479968.1:n.2673+2045G>A
ENST00000620969.4:c.580+2045G>A (CYFIP2)	ENSP00000483307.1:n.580+2045G>A
NM_001001343.3:c.335C>T (FNDC9)	NP_001001343.2:p.Ser112Phe
NM_001037333.2:c.2673+2045G>A (CYFIP2)	NP_001032410.1:n.2673+2045G>A
NM_001291721.1:c.2595+2045G>A (CYFIP2)	NP_001278650.1:n.2595+2045G>A
NM_001291722.1:c.2748+2045G>A (CYFIP2)	NP_001278651.1:n.2748+2045G>A
NM_014376.3:c.2673+2045G>A (CYFIP2)	NP_055191.2:n.2673+2045G>A
XM_011534516.1:c.2673+2045G>A (CYFIP2)	XP_011532818.1:n.2673+2045G>A
XM_011534517.1:c.2460+2045G>A (CYFIP2)	XP_011532819.1:n.2460+2045G>A
XM_011534516.3:c.2673+2045G>A (CYFIP2)	XP_011532818.1:n.2673+2045G>A
XM_017009341.1:c.2673+2045G>A (CYFIP2)	XP_016864830.1:n.2673+2045G>A
XM_017009342.1:c.2460+2045G>A (CYFIP2)	XP_016864831.1:n.2460+2045G>A
XR_001742052.2:n.2778+2045G>A (CYFIP2)
NM_001001343.4:c.335C>T (FNDC9) MANE Select	NP_001001343.2:p.Ser112Phe
NM_001037333.3:c.2673+2045G>A (CYFIP2) MANE Select	NP_001032410.1:n.2673+2045G>A
NM_001291721.2:c.2595+2045G>A (CYFIP2)	NP_001278650.1:n.2595+2045G>A
NM_001291722.2:c.2748+2045G>A (CYFIP2)	NP_001278651.1:n.2748+2045G>A
NM_014376.4:c.2673+2045G>A (CYFIP2)	NP_055191.2:n.2673+2045G>A