Canonical Allele Identifier: CA360754642

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668615A>G (hg19) ; chr5:g.128332923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332923A>G , CM000667.2:g.128332923A>G	GRCh38
NC_000005.9:g.127668615A>G , CM000667.1:g.127668615A>G	GRCh37
NC_000005.8:g.127696514A>G	NCBI36
NG_008750.1:g.210121T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.995T>C
ENST00000703785.1:n.1076T>C
ENST00000262464.9:c.4211T>C MANE Select	ENSP00000262464.4:p.Ile1404Thr
ENST00000262464.8:c.4211T>C	ENSP00000262464.4:p.Ile1404Thr
ENST00000507835.5:c.761T>C	ENSP00000426839.1:p.Ile254Thr
ENST00000508053.5:c.4211T>C	ENSP00000424571.1:p.Ile1404Thr
ENST00000508989.5:c.4112T>C	ENSP00000425596.1:p.Ile1371Thr
ENST00000619499.4:c.4208T>C	ENSP00000482132.1:p.Ile1403Thr
NM_001999.3:c.4211T>C	NP_001990.2:p.Ile1404Thr
XM_017009228.2:c.4058T>C	XP_016864717.1:p.Ile1353Thr
NM_001999.4:c.4211T>C MANE Select	NP_001990.2:p.Ile1404Thr