Canonical Allele Identifier: CA360758159

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671266A>C (hg19) ; chr5:g.128335574A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335574A>C , CM000667.2:g.128335574A>C	GRCh38
NC_000005.9:g.127671266A>C , CM000667.1:g.127671266A>C	GRCh37
NC_000005.8:g.127699165A>C	NCBI36
NG_008750.1:g.207470T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.512T>G
ENST00000703785.1:n.593T>G
ENST00000262464.9:c.3728T>G MANE Select	ENSP00000262464.4:p.Ile1243Ser
ENST00000262464.8:c.3728T>G	ENSP00000262464.4:p.Ile1243Ser
ENST00000507835.5:c.278T>G	ENSP00000426839.1:p.Ile93Ser
ENST00000508053.5:c.3728T>G	ENSP00000424571.1:p.Ile1243Ser
ENST00000508989.5:c.3629T>G	ENSP00000425596.1:p.Ile1210Ser
ENST00000619499.4:c.3725T>G	ENSP00000482132.1:p.Ile1242Ser
NM_001999.3:c.3728T>G	NP_001990.2:p.Ile1243Ser
XM_017009228.2:c.3575T>G	XP_016864717.1:p.Ile1192Ser
NM_001999.4:c.3728T>G MANE Select	NP_001990.2:p.Ile1243Ser