Canonical Allele Identifier: CA446309526

Gene: FBN2

Linked Data

• dbSNP Id: rs757553438
• MyVariant Identifiers: chr5:g.127668677T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332985T>G , CM000667.2:g.128332985T>G	GRCh38
NC_000005.9:g.127668677T>G , CM000667.1:g.127668677T>G	GRCh37
NC_000005.8:g.127696576T>G	NCBI36
NG_008750.1:g.210059A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.933A>C
ENST00000703785.1:n.1014A>C
ENST00000262464.9:c.4149A>C MANE Select	ENSP00000262464.4:p.Ser1383=
ENST00000262464.8:c.4149A>C	ENSP00000262464.4:p.Ser1383=
ENST00000507835.5:c.699A>C	ENSP00000426839.1:p.Ser233=
ENST00000508053.5:c.4149A>C	ENSP00000424571.1:p.Ser1383=
ENST00000508989.5:c.4050A>C	ENSP00000425596.1:p.Ser1350=
ENST00000619499.4:c.4146A>C	ENSP00000482132.1:p.Ser1382=
NM_001999.3:c.4149A>C	NP_001990.2:p.Ser1383=
XM_017009228.2:c.3996A>C	XP_016864717.1:p.Ser1332=
NM_001999.4:c.4149A>C MANE Select	NP_001990.2:p.Ser1383=