Canonical Allele Identifier: CA446310539

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338001-A-G
• MyVariant Identifiers: chr5:g.127673693A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338001A>G , CM000667.2:g.128338001A>G	GRCh38
NC_000005.9:g.127673693A>G , CM000667.1:g.127673693A>G	GRCh37
NC_000005.8:g.127701592A>G	NCBI36
NG_008750.1:g.205043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.378T>C
ENST00000703785.1:n.459T>C
ENST00000262464.9:c.3594T>C MANE Select	ENSP00000262464.4:p.Cys1198=
ENST00000262464.8:c.3594T>C	ENSP00000262464.4:p.Cys1198=
ENST00000507835.5:c.144T>C	ENSP00000426839.1:p.Cys48=
ENST00000508053.5:c.3594T>C	ENSP00000424571.1:p.Cys1198=
ENST00000508989.5:c.3495T>C	ENSP00000425596.1:p.Cys1165=
ENST00000619499.4:c.3591T>C	ENSP00000482132.1:p.Cys1197=
NM_001999.3:c.3594T>C	NP_001990.2:p.Cys1198=
XM_017009228.2:c.3441T>C	XP_016864717.1:p.Cys1147=
NM_001999.4:c.3594T>C MANE Select	NP_001990.2:p.Cys1198=