Canonical Allele Identifier: CA360758203

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2818679
• ClinVar RCV Id: RCV003641540
• MyVariant Identifiers: chr5:g.127671691T>A (hg19) ; chr5:g.128335999T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335999T>A , CM000667.2:g.128335999T>A	GRCh38
NC_000005.9:g.127671691T>A , CM000667.1:g.127671691T>A	GRCh37
NC_000005.8:g.127699590T>A	NCBI36
NG_008750.1:g.207045A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.497A>T
ENST00000703785.1:n.578A>T
ENST00000262464.9:c.3713A>T MANE Select	ENSP00000262464.4:p.Gln1238Leu
ENST00000262464.8:c.3713A>T	ENSP00000262464.4:p.Gln1238Leu
ENST00000507835.5:c.263A>T	ENSP00000426839.1:p.Gln88Leu
ENST00000508053.5:c.3713A>T	ENSP00000424571.1:p.Gln1238Leu
ENST00000508989.5:c.3614A>T	ENSP00000425596.1:p.Gln1205Leu
ENST00000619499.4:c.3710A>T	ENSP00000482132.1:p.Gln1237Leu
NM_001999.3:c.3713A>T	NP_001990.2:p.Gln1238Leu
XM_017009228.2:c.3560A>T	XP_016864717.1:p.Gln1187Leu
NM_001999.4:c.3713A>T MANE Select	NP_001990.2:p.Gln1238Leu