Canonical Allele Identifier: CA360759340

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338050-T-C
• MyVariant Identifiers: chr5:g.127673742T>C (hg19) ; chr5:g.128338050T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338050T>C , CM000667.2:g.128338050T>C	GRCh38
NC_000005.9:g.127673742T>C , CM000667.1:g.127673742T>C	GRCh37
NC_000005.8:g.127701641T>C	NCBI36
NG_008750.1:g.204994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.329A>G
ENST00000703785.1:n.410A>G
ENST00000262464.9:c.3545A>G MANE Select	ENSP00000262464.4:p.Gln1182Arg
ENST00000262464.8:c.3545A>G	ENSP00000262464.4:p.Gln1182Arg
ENST00000507835.5:c.95A>G	ENSP00000426839.1:p.Gln32Arg
ENST00000508053.5:c.3545A>G	ENSP00000424571.1:p.Gln1182Arg
ENST00000508989.5:c.3446A>G	ENSP00000425596.1:p.Gln1149Arg
ENST00000619499.4:c.3542A>G	ENSP00000482132.1:p.Gln1181Arg
NM_001999.3:c.3545A>G	NP_001990.2:p.Gln1182Arg
XM_017009228.2:c.3392A>G	XP_016864717.1:p.Gln1131Arg
NM_001999.4:c.3545A>G MANE Select	NP_001990.2:p.Gln1182Arg