Canonical Allele Identifier: CA3395178

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128336086T>C , CM000667.2:g.128336086T>C	GRCh38
NC_000005.9:g.127671778T>C , CM000667.1:g.127671778T>C	GRCh37
NC_000005.8:g.127699677T>C	NCBI36
NG_008750.1:g.206958A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3626A>G MANE Select	NP_001990.2:p.Asn1209Ser
ENST00000262464.9:c.3626A>G MANE Select	ENSP00000262464.4:p.Asn1209Ser
NM_001999.3:c.3626A>G	NP_001990.2:p.Asn1209Ser
ENST00000262464.8:c.3626A>G	ENSP00000262464.4:p.Asn1209Ser
ENST00000507835.5:c.176A>G	ENSP00000426839.1:p.Asn59Ser
ENST00000508053.5:c.3626A>G	ENSP00000424571.1:p.Asn1209Ser
ENST00000508989.5:c.3527A>G	ENSP00000425596.1:p.Asn1176Ser
ENST00000619499.4:c.3623A>G	ENSP00000482132.1:p.Asn1208Ser
ENST00000703783.1:n.410A>G
ENST00000703785.1:n.491A>G
XM_017009228.2:c.3473A>G	XP_016864717.1:p.Asn1158Ser