Canonical Allele Identifier: CA360753790

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1308524
• ClinVar RCV Id: RCV001763436
• dbSNP Id: rs1222584747
• gnomAD v2: 5-127666267-G-A
• gnomAD v4: 5-128330575-G-A
• MyVariant Identifiers: chr5:g.127666267G>A (hg19) ; chr5:g.128330575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330575G>A , CM000667.2:g.128330575G>A	GRCh38
NC_000005.9:g.127666267G>A , CM000667.1:g.127666267G>A	GRCh37
NC_000005.8:g.127694166G>A	NCBI36
NG_008750.1:g.212469C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1127C>T
ENST00000703785.1:n.1208C>T
ENST00000262464.9:c.4343C>T MANE Select	ENSP00000262464.4:p.Ser1448Leu
ENST00000262464.8:c.4343C>T	ENSP00000262464.4:p.Ser1448Leu
ENST00000507835.5:c.893C>T	ENSP00000426839.1:p.Ser298Leu
ENST00000508053.5:c.4343C>T	ENSP00000424571.1:p.Ser1448Leu
ENST00000508989.5:c.4244C>T	ENSP00000425596.1:p.Ser1415Leu
ENST00000619499.4:c.4340C>T	ENSP00000482132.1:p.Ser1447Leu
NM_001999.3:c.4343C>T	NP_001990.2:p.Ser1448Leu
XM_017009228.2:c.4190C>T	XP_016864717.1:p.Ser1397Leu
NM_001999.4:c.4343C>T MANE Select	NP_001990.2:p.Ser1448Leu