Canonical Allele Identifier: CA360767502

Gene: FBN2

Linked Data

• dbSNP Id: rs1393391044
• gnomAD v2: 5-127693068-G-T
• gnomAD v4: 5-128357376-G-T
• MyVariant Identifiers: chr5:g.127693068G>T (hg19) ; chr5:g.128357376G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357376G>T , CM000667.2:g.128357376G>T	GRCh38
NC_000005.9:g.127693068G>T , CM000667.1:g.127693068G>T	GRCh37
NC_000005.8:g.127720967G>T	NCBI36
NG_008750.1:g.185668C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2574C>A MANE Select	ENSP00000262464.4:p.Ser858Arg
ENST00000262464.8:c.2574C>A	ENSP00000262464.4:p.Ser858Arg
ENST00000508053.5:c.2574C>A	ENSP00000424571.1:p.Ser858Arg
ENST00000508989.5:c.2475C>A	ENSP00000425596.1:p.Ser825Arg
ENST00000619499.4:c.2571C>A	ENSP00000482132.1:p.Ser857Arg
NM_001999.3:c.2574C>A	NP_001990.2:p.Ser858Arg
XM_017009228.2:c.2421C>A	XP_016864717.1:p.Ser807Arg
NM_001999.4:c.2574C>A MANE Select	NP_001990.2:p.Ser858Arg