Canonical Allele Identifier: CA360753824

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330582-T-A
• MyVariant Identifiers: chr5:g.127666274T>A (hg19) ; chr5:g.128330582T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330582T>A , CM000667.2:g.128330582T>A	GRCh38
NC_000005.9:g.127666274T>A , CM000667.1:g.127666274T>A	GRCh37
NC_000005.8:g.127694173T>A	NCBI36
NG_008750.1:g.212462A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1120A>T
ENST00000703785.1:n.1201A>T
ENST00000262464.9:c.4336A>T MANE Select	ENSP00000262464.4:p.Thr1446Ser
ENST00000262464.8:c.4336A>T	ENSP00000262464.4:p.Thr1446Ser
ENST00000507835.5:c.886A>T	ENSP00000426839.1:p.Thr296Ser
ENST00000508053.5:c.4336A>T	ENSP00000424571.1:p.Thr1446Ser
ENST00000508989.5:c.4237A>T	ENSP00000425596.1:p.Thr1413Ser
ENST00000619499.4:c.4333A>T	ENSP00000482132.1:p.Thr1445Ser
NM_001999.3:c.4336A>T	NP_001990.2:p.Thr1446Ser
XM_017009228.2:c.4183A>T	XP_016864717.1:p.Thr1395Ser
NM_001999.4:c.4336A>T MANE Select	NP_001990.2:p.Thr1446Ser