Canonical Allele Identifier: CA360759373

Gene: FBN2

Linked Data

• dbSNP Id: rs1195359208
• gnomAD v2: 5-127673757-G-T
• MyVariant Identifiers: chr5:g.127673757G>T (hg19) ; chr5:g.128338065G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338065G>T , CM000667.2:g.128338065G>T	GRCh38
NC_000005.9:g.127673757G>T , CM000667.1:g.127673757G>T	GRCh37
NC_000005.8:g.127701656G>T	NCBI36
NG_008750.1:g.204979C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.314C>A
ENST00000703785.1:n.395C>A
ENST00000262464.9:c.3530C>A MANE Select	ENSP00000262464.4:p.Thr1177Asn
ENST00000262464.8:c.3530C>A	ENSP00000262464.4:p.Thr1177Asn
ENST00000507835.5:c.80C>A	ENSP00000426839.1:p.Thr27Asn
ENST00000508053.5:c.3530C>A	ENSP00000424571.1:p.Thr1177Asn
ENST00000508989.5:c.3431C>A	ENSP00000425596.1:p.Thr1144Asn
ENST00000619499.4:c.3527C>A	ENSP00000482132.1:p.Thr1176Asn
NM_001999.3:c.3530C>A	NP_001990.2:p.Thr1177Asn
XM_017009228.2:c.3377C>A	XP_016864717.1:p.Thr1126Asn
NM_001999.4:c.3530C>A MANE Select	NP_001990.2:p.Thr1177Asn