Canonical Allele Identifier: CA360753932

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666298C>G (hg19) ; chr5:g.128330606C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330606C>G , CM000667.2:g.128330606C>G	GRCh38
NC_000005.9:g.127666298C>G , CM000667.1:g.127666298C>G	GRCh37
NC_000005.8:g.127694197C>G	NCBI36
NG_008750.1:g.212438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1096G>C
ENST00000703785.1:n.1177G>C
ENST00000262464.9:c.4312G>C MANE Select	ENSP00000262464.4:p.Glu1438Gln
ENST00000262464.8:c.4312G>C	ENSP00000262464.4:p.Glu1438Gln
ENST00000507835.5:c.862G>C	ENSP00000426839.1:p.Glu288Gln
ENST00000508053.5:c.4312G>C	ENSP00000424571.1:p.Glu1438Gln
ENST00000508989.5:c.4213G>C	ENSP00000425596.1:p.Glu1405Gln
ENST00000619499.4:c.4309G>C	ENSP00000482132.1:p.Glu1437Gln
NM_001999.3:c.4312G>C	NP_001990.2:p.Glu1438Gln
XM_017009228.2:c.4159G>C	XP_016864717.1:p.Glu1387Gln
NM_001999.4:c.4312G>C MANE Select	NP_001990.2:p.Glu1438Gln