Canonical Allele Identifier: CA446310420

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671741T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128336049T>C , CM000667.2:g.128336049T>C	GRCh38
NC_000005.9:g.127671741T>C , CM000667.1:g.127671741T>C	GRCh37
NC_000005.8:g.127699640T>C	NCBI36
NG_008750.1:g.206995A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.447A>G
ENST00000703785.1:n.528A>G
ENST00000262464.9:c.3663A>G MANE Select	ENSP00000262464.4:p.Gly1221=
ENST00000262464.8:c.3663A>G	ENSP00000262464.4:p.Gly1221=
ENST00000507835.5:c.213A>G	ENSP00000426839.1:p.Gly71=
ENST00000508053.5:c.3663A>G	ENSP00000424571.1:p.Gly1221=
ENST00000508989.5:c.3564A>G	ENSP00000425596.1:p.Gly1188=
ENST00000619499.4:c.3660A>G	ENSP00000482132.1:p.Gly1220=
NM_001999.3:c.3663A>G	NP_001990.2:p.Gly1221=
XM_017009228.2:c.3510A>G	XP_016864717.1:p.Gly1170=
NM_001999.4:c.3663A>G MANE Select	NP_001990.2:p.Gly1221=