Canonical Allele Identifier: CA360759430

Gene: FBN2

Linked Data

• ClinVar Variation Id: 547357
• ClinVar RCV Id: RCV000659614
• dbSNP Id: rs1554123061
• MyVariant Identifiers: chr5:g.127673770T>A (hg19) ; chr5:g.128338078T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338078T>A , CM000667.2:g.128338078T>A	GRCh38
NC_000005.9:g.127673770T>A , CM000667.1:g.127673770T>A	GRCh37
NC_000005.8:g.127701669T>A	NCBI36
NG_008750.1:g.204966A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.301A>T
ENST00000703785.1:n.382A>T
ENST00000262464.9:c.3517A>T MANE Select	ENSP00000262464.4:p.Thr1173Ser
ENST00000262464.8:c.3517A>T	ENSP00000262464.4:p.Thr1173Ser
ENST00000507835.5:c.67A>T	ENSP00000426839.1:p.Thr23Ser
ENST00000508053.5:c.3517A>T	ENSP00000424571.1:p.Thr1173Ser
ENST00000508989.5:c.3418A>T	ENSP00000425596.1:p.Thr1140Ser
ENST00000619499.4:c.3514A>T	ENSP00000482132.1:p.Thr1172Ser
NM_001999.3:c.3517A>T	NP_001990.2:p.Thr1173Ser
XM_017009228.2:c.3364A>T	XP_016864717.1:p.Thr1122Ser
NM_001999.4:c.3517A>T MANE Select	NP_001990.2:p.Thr1173Ser