Canonical Allele Identifier: CA3395137

Gene: FBN2

Linked Data

• ClinVar Variation Id: 636597
• ClinVar RCV Id: RCV000788469
• dbSNP Id: rs745509023
• ExAC: 5:127671183 C / A
• gnomAD v2: 5-127671183-C-A
• MyVariant Identifiers: chr5:g.127671183C>A (hg19) ; chr5:g.128335491C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335491C>A , CM000667.2:g.128335491C>A	GRCh38
NC_000005.9:g.127671183C>A , CM000667.1:g.127671183C>A	GRCh37
NC_000005.8:g.127699082C>A	NCBI36
NG_008750.1:g.207553G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.595G>T
ENST00000703785.1:n.676G>T
ENST00000262464.9:c.3811G>T MANE Select	ENSP00000262464.4:p.Gly1271Cys
ENST00000262464.8:c.3811G>T	ENSP00000262464.4:p.Gly1271Cys
ENST00000507835.5:c.361G>T	ENSP00000426839.1:p.Gly121Cys
ENST00000508053.5:c.3811G>T	ENSP00000424571.1:p.Gly1271Cys
ENST00000508989.5:c.3712G>T	ENSP00000425596.1:p.Gly1238Cys
ENST00000619499.4:c.3808G>T	ENSP00000482132.1:p.Gly1270Cys
NM_001999.3:c.3811G>T	NP_001990.2:p.Gly1271Cys
XM_017009228.2:c.3658G>T	XP_016864717.1:p.Gly1220Cys
NM_001999.4:c.3811G>T MANE Select	NP_001990.2:p.Gly1271Cys