Canonical Allele Identifier: CA360753943

Gene: FBN2

Linked Data

• dbSNP Id: rs1480243082
• gnomAD v2: 5-127666301-A-G
• gnomAD v4: 5-128330609-A-G
• MyVariant Identifiers: chr5:g.127666301A>G (hg19) ; chr5:g.128330609A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330609A>G , CM000667.2:g.128330609A>G	GRCh38
NC_000005.9:g.127666301A>G , CM000667.1:g.127666301A>G	GRCh37
NC_000005.8:g.127694200A>G	NCBI36
NG_008750.1:g.212435T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1093T>C
ENST00000703785.1:n.1174T>C
ENST00000262464.9:c.4309T>C MANE Select	ENSP00000262464.4:p.Ser1437Pro
ENST00000262464.8:c.4309T>C	ENSP00000262464.4:p.Ser1437Pro
ENST00000507835.5:c.859T>C	ENSP00000426839.1:p.Ser287Pro
ENST00000508053.5:c.4309T>C	ENSP00000424571.1:p.Ser1437Pro
ENST00000508989.5:c.4210T>C	ENSP00000425596.1:p.Ser1404Pro
ENST00000619499.4:c.4306T>C	ENSP00000482132.1:p.Ser1436Pro
NM_001999.3:c.4309T>C	NP_001990.2:p.Ser1437Pro
XM_017009228.2:c.4156T>C	XP_016864717.1:p.Ser1386Pro
NM_001999.4:c.4309T>C MANE Select	NP_001990.2:p.Ser1437Pro