Canonical Allele Identifier: CA360739849

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127640681A>G (hg19) ; chr5:g.128304989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304989A>G , CM000667.2:g.128304989A>G	GRCh38
NC_000005.9:g.127640681A>G , CM000667.1:g.127640681A>G	GRCh37
NC_000005.8:g.127668580A>G	NCBI36
NG_008750.1:g.238055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2552T>C
ENST00000703785.1:n.2471T>C
ENST00000262464.9:c.5768T>C MANE Select	ENSP00000262464.4:p.Phe1923Ser
ENST00000262464.8:c.5768T>C	ENSP00000262464.4:p.Phe1923Ser
ENST00000508053.5:c.5768T>C	ENSP00000424571.1:p.Phe1923Ser
ENST00000619499.4:c.5765T>C	ENSP00000482132.1:p.Phe1922Ser
NM_001999.3:c.5768T>C	NP_001990.2:p.Phe1923Ser
XM_017009228.2:c.5615T>C	XP_016864717.1:p.Phe1872Ser
NM_001999.4:c.5768T>C MANE Select	NP_001990.2:p.Phe1923Ser