Canonical Allele Identifier: CA360761648

Gene: FBN2

Linked Data

• dbSNP Id: rs1447614797
• gnomAD v2: 5-127680082-C-A
• gnomAD v4: 5-128344390-C-A
• MyVariant Identifiers: chr5:g.127680082C>A (hg19) ; chr5:g.128344390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344390C>A , CM000667.2:g.128344390C>A	GRCh38
NC_000005.9:g.127680082C>A , CM000667.1:g.127680082C>A	GRCh37
NC_000005.8:g.127707981C>A	NCBI36
NG_008750.1:g.198654G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.3338G>T MANE Select	ENSP00000262464.4:p.Cys1113Phe
ENST00000262464.8:c.3338G>T	ENSP00000262464.4:p.Cys1113Phe
ENST00000508053.5:c.3338G>T	ENSP00000424571.1:p.Cys1113Phe
ENST00000508989.5:c.3239G>T	ENSP00000425596.1:p.Cys1080Phe
ENST00000619499.4:c.3335G>T	ENSP00000482132.1:p.Cys1112Phe
NM_001999.3:c.3338G>T	NP_001990.2:p.Cys1113Phe
XM_017009228.2:c.3185G>T	XP_016864717.1:p.Cys1062Phe
NM_001999.4:c.3338G>T MANE Select	NP_001990.2:p.Cys1113Phe