Canonical Allele Identifier: CA360759445

Gene: FBN2

Linked Data

• dbSNP Id: rs1436430760
• gnomAD v2: 5-127673775-C-A
• gnomAD v4: 5-128338083-C-A
• MyVariant Identifiers: chr5:g.127673775C>A (hg19) ; chr5:g.128338083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338083C>A , CM000667.2:g.128338083C>A	GRCh38
NC_000005.9:g.127673775C>A , CM000667.1:g.127673775C>A	GRCh37
NC_000005.8:g.127701674C>A	NCBI36
NG_008750.1:g.204961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.296G>T
ENST00000703785.1:n.377G>T
ENST00000262464.9:c.3512G>T MANE Select	ENSP00000262464.4:p.Gly1171Val
ENST00000262464.8:c.3512G>T	ENSP00000262464.4:p.Gly1171Val
ENST00000507835.5:c.62G>T	ENSP00000426839.1:p.Gly21Val
ENST00000508053.5:c.3512G>T	ENSP00000424571.1:p.Gly1171Val
ENST00000508989.5:c.3413G>T	ENSP00000425596.1:p.Gly1138Val
ENST00000619499.4:c.3509G>T	ENSP00000482132.1:p.Gly1170Val
NM_001999.3:c.3512G>T	NP_001990.2:p.Gly1171Val
XM_017009228.2:c.3359G>T	XP_016864717.1:p.Gly1120Val
NM_001999.4:c.3512G>T MANE Select	NP_001990.2:p.Gly1171Val