Canonical Allele Identifier: CA360759518

Gene: FBN2

Linked Data

• dbSNP Id: rs1750894251
• gnomAD v4: 5-128338099-G-T
• MyVariant Identifiers: chr5:g.127673791G>T (hg19) ; chr5:g.128338099G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338099G>T , CM000667.2:g.128338099G>T	GRCh38
NC_000005.9:g.127673791G>T , CM000667.1:g.127673791G>T	GRCh37
NC_000005.8:g.127701690G>T	NCBI36
NG_008750.1:g.204945C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.280C>A
ENST00000703785.1:n.361C>A
ENST00000262464.9:c.3496C>A MANE Select	ENSP00000262464.4:p.Pro1166Thr
ENST00000262464.8:c.3496C>A	ENSP00000262464.4:p.Pro1166Thr
ENST00000507835.5:c.46C>A	ENSP00000426839.1:p.Pro16Thr
ENST00000508053.5:c.3496C>A	ENSP00000424571.1:p.Pro1166Thr
ENST00000508989.5:c.3397C>A	ENSP00000425596.1:p.Pro1133Thr
ENST00000619499.4:c.3493C>A	ENSP00000482132.1:p.Pro1165Thr
NM_001999.3:c.3496C>A	NP_001990.2:p.Pro1166Thr
XM_017009228.2:c.3343C>A	XP_016864717.1:p.Pro1115Thr
NM_001999.4:c.3496C>A MANE Select	NP_001990.2:p.Pro1166Thr