Canonical Allele Identifier: CA360754218

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330692-A-G
• MyVariant Identifiers: chr5:g.127666384A>G (hg19) ; chr5:g.128330692A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330692A>G , CM000667.2:g.128330692A>G	GRCh38
NC_000005.9:g.127666384A>G , CM000667.1:g.127666384A>G	GRCh37
NC_000005.8:g.127694283A>G	NCBI36
NG_008750.1:g.212352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1010T>C
ENST00000703785.1:n.1091T>C
ENST00000262464.9:c.4226T>C MANE Select	ENSP00000262464.4:p.Leu1409Pro
ENST00000262464.8:c.4226T>C	ENSP00000262464.4:p.Leu1409Pro
ENST00000507835.5:c.776T>C	ENSP00000426839.1:p.Leu259Pro
ENST00000508053.5:c.4226T>C	ENSP00000424571.1:p.Leu1409Pro
ENST00000508989.5:c.4127T>C	ENSP00000425596.1:p.Leu1376Pro
ENST00000619499.4:c.4223T>C	ENSP00000482132.1:p.Leu1408Pro
NM_001999.3:c.4226T>C	NP_001990.2:p.Leu1409Pro
XM_017009228.2:c.4073T>C	XP_016864717.1:p.Leu1358Pro
NM_001999.4:c.4226T>C MANE Select	NP_001990.2:p.Leu1409Pro