Canonical Allele Identifier: CA1581282282

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357371G= , CM000667.2:g.128357371G=	GRCh38
NC_000005.9:g.127693063G= , CM000667.1:g.127693063G=	GRCh37
NC_000005.8:g.127720962G=	NCBI36
NG_008750.1:g.185673C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2579C= MANE Select	ENSP00000262464.4:p.Pro860=
ENST00000262464.8:c.2579C=	ENSP00000262464.4:p.Pro860=
ENST00000508053.5:c.2579C=	ENSP00000424571.1:p.Pro860=
ENST00000508989.5:c.2480C=	ENSP00000425596.1:p.Pro827=
ENST00000619499.4:c.2576C=	ENSP00000482132.1:p.Pro859=
NM_001999.3:c.2579C=	NP_001990.2:p.Pro860=
XM_017009228.2:c.2426C=	XP_016864717.1:p.Pro809=
NM_001999.4:c.2579C= MANE Select	NP_001990.2:p.Pro860=