Canonical Allele Identifier: CA3394502

Gene: FBN2

Linked Data

• ClinVar Variation Id: 263401
• ClinVar RCV Id: RCV000244909 ; RCV000685075 ; RCV000765798 ; RCV001589297
• dbSNP Id: rs139668142
• ExAC: 5:127636598 G / A
• gnomAD v2: 5-127636598-G-A
• gnomAD v3: 5-128300906-G-A
• gnomAD v4: 5-128300906-G-A
• MyVariant Identifiers: chr5:g.127636598G>A (hg19) ; chr5:g.128300906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300906G>A , CM000667.2:g.128300906G>A	GRCh38
NC_000005.9:g.127636598G>A , CM000667.1:g.127636598G>A	GRCh37
NC_000005.8:g.127664497G>A	NCBI36
NG_008750.1:g.242138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2861C>T
ENST00000703785.1:n.2780C>T
ENST00000262464.9:c.6077C>T MANE Select	ENSP00000262464.4:p.Ser2026Phe
ENST00000262464.8:c.6077C>T	ENSP00000262464.4:p.Ser2026Phe
ENST00000508053.5:c.6077C>T	ENSP00000424571.1:p.Ser2026Phe
ENST00000619499.4:c.6074C>T	ENSP00000482132.1:p.Ser2025Phe
NM_001999.3:c.6077C>T	NP_001990.2:p.Ser2026Phe
XM_017009228.2:c.5924C>T	XP_016864717.1:p.Ser1975Phe
NM_001999.4:c.6077C>T MANE Select	NP_001990.2:p.Ser2026Phe