Canonical Allele Identifier: CA360755351

Gene: FBN2

Linked Data

• gnomAD v4: 5-128333013-C-G
• MyVariant Identifiers: chr5:g.127668705C>G (hg19) ; chr5:g.128333013C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333013C>G , CM000667.2:g.128333013C>G	GRCh38
NC_000005.9:g.127668705C>G , CM000667.1:g.127668705C>G	GRCh37
NC_000005.8:g.127696604C>G	NCBI36
NG_008750.1:g.210031G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.905G>C
ENST00000703785.1:n.986G>C
ENST00000262464.9:c.4121G>C MANE Select	ENSP00000262464.4:p.Gly1374Ala
ENST00000262464.8:c.4121G>C	ENSP00000262464.4:p.Gly1374Ala
ENST00000507835.5:c.671G>C	ENSP00000426839.1:p.Gly224Ala
ENST00000508053.5:c.4121G>C	ENSP00000424571.1:p.Gly1374Ala
ENST00000508989.5:c.4022G>C	ENSP00000425596.1:p.Gly1341Ala
ENST00000619499.4:c.4118G>C	ENSP00000482132.1:p.Gly1373Ala
NM_001999.3:c.4121G>C	NP_001990.2:p.Gly1374Ala
XM_017009228.2:c.3968G>C	XP_016864717.1:p.Gly1323Ala
NM_001999.4:c.4121G>C MANE Select	NP_001990.2:p.Gly1374Ala