Canonical Allele Identifier: CA446309212

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330625-T-G
• MyVariant Identifiers: chr5:g.127666317T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330625T>G , CM000667.2:g.128330625T>G	GRCh38
NC_000005.9:g.127666317T>G , CM000667.1:g.127666317T>G	GRCh37
NC_000005.8:g.127694216T>G	NCBI36
NG_008750.1:g.212419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1077A>C
ENST00000703785.1:n.1158A>C
ENST00000262464.9:c.4293A>C MANE Select	ENSP00000262464.4:p.Ser1431=
ENST00000262464.8:c.4293A>C	ENSP00000262464.4:p.Ser1431=
ENST00000507835.5:c.843A>C	ENSP00000426839.1:p.Ser281=
ENST00000508053.5:c.4293A>C	ENSP00000424571.1:p.Ser1431=
ENST00000508989.5:c.4194A>C	ENSP00000425596.1:p.Ser1398=
ENST00000619499.4:c.4290A>C	ENSP00000482132.1:p.Ser1430=
NM_001999.3:c.4293A>C	NP_001990.2:p.Ser1431=
XM_017009228.2:c.4140A>C	XP_016864717.1:p.Ser1380=
NM_001999.4:c.4293A>C MANE Select	NP_001990.2:p.Ser1431=