Canonical Allele Identifier: CA360759161

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2731286
• ClinVar RCV Id: RCV003527090
• gnomAD v4: 5-128338011-C-G
• MyVariant Identifiers: chr5:g.127673703C>G (hg19) ; chr5:g.128338011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338011C>G , CM000667.2:g.128338011C>G	GRCh38
NC_000005.9:g.127673703C>G , CM000667.1:g.127673703C>G	GRCh37
NC_000005.8:g.127701602C>G	NCBI36
NG_008750.1:g.205033G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.368G>C
ENST00000703785.1:n.449G>C
ENST00000262464.9:c.3584G>C MANE Select	ENSP00000262464.4:p.Arg1195Pro
ENST00000262464.8:c.3584G>C	ENSP00000262464.4:p.Arg1195Pro
ENST00000507835.5:c.134G>C	ENSP00000426839.1:p.Arg45Pro
ENST00000508053.5:c.3584G>C	ENSP00000424571.1:p.Arg1195Pro
ENST00000508989.5:c.3485G>C	ENSP00000425596.1:p.Arg1162Pro
ENST00000619499.4:c.3581G>C	ENSP00000482132.1:p.Arg1194Pro
NM_001999.3:c.3584G>C	NP_001990.2:p.Arg1195Pro
XM_017009228.2:c.3431G>C	XP_016864717.1:p.Arg1144Pro
NM_001999.4:c.3584G>C MANE Select	NP_001990.2:p.Arg1195Pro