Canonical Allele Identifier: CA360754113

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1739212
• ClinVar RCV Id: RCV002329987
• MyVariant Identifiers: chr5:g.127666343C>A (hg19) ; chr5:g.128330651C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330651C>A , CM000667.2:g.128330651C>A	GRCh38
NC_000005.9:g.127666343C>A , CM000667.1:g.127666343C>A	GRCh37
NC_000005.8:g.127694242C>A	NCBI36
NG_008750.1:g.212393G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1051G>T
ENST00000703785.1:n.1132G>T
ENST00000262464.9:c.4267G>T MANE Select	ENSP00000262464.4:p.Ala1423Ser
ENST00000262464.8:c.4267G>T	ENSP00000262464.4:p.Ala1423Ser
ENST00000507835.5:c.817G>T	ENSP00000426839.1:p.Ala273Ser
ENST00000508053.5:c.4267G>T	ENSP00000424571.1:p.Ala1423Ser
ENST00000508989.5:c.4168G>T	ENSP00000425596.1:p.Ala1390Ser
ENST00000619499.4:c.4264G>T	ENSP00000482132.1:p.Ala1422Ser
NM_001999.3:c.4267G>T	NP_001990.2:p.Ala1423Ser
XM_017009228.2:c.4114G>T	XP_016864717.1:p.Ala1372Ser
NM_001999.4:c.4267G>T MANE Select	NP_001990.2:p.Ala1423Ser