Canonical Allele Identifier: CA360754172

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1314763
• ClinVar RCV Id: RCV001765804 ; RCV001825032
• dbSNP Id: rs2126889179
• MyVariant Identifiers: chr5:g.127666366C>A (hg19) ; chr5:g.128330674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330674C>A , CM000667.2:g.128330674C>A	GRCh38
NC_000005.9:g.127666366C>A , CM000667.1:g.127666366C>A	GRCh37
NC_000005.8:g.127694265C>A	NCBI36
NG_008750.1:g.212370G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1028G>T
ENST00000703785.1:n.1109G>T
ENST00000262464.9:c.4244G>T MANE Select	ENSP00000262464.4:p.Gly1415Val
ENST00000262464.8:c.4244G>T	ENSP00000262464.4:p.Gly1415Val
ENST00000507835.5:c.794G>T	ENSP00000426839.1:p.Gly265Val
ENST00000508053.5:c.4244G>T	ENSP00000424571.1:p.Gly1415Val
ENST00000508989.5:c.4145G>T	ENSP00000425596.1:p.Gly1382Val
ENST00000619499.4:c.4241G>T	ENSP00000482132.1:p.Gly1414Val
NM_001999.3:c.4244G>T	NP_001990.2:p.Gly1415Val
XM_017009228.2:c.4091G>T	XP_016864717.1:p.Gly1364Val
NM_001999.4:c.4244G>T MANE Select	NP_001990.2:p.Gly1415Val