Canonical Allele Identifier: CA127015601

Gene: FBN2

Linked Data

• dbSNP Id: rs981472934
• gnomAD v4: 5-128339072-G-A
• MyVariant Identifiers: chr5:g.127674764G>A (hg19) ; chr5:g.128339072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339072G>A , CM000667.2:g.128339072G>A	GRCh38
NC_000005.9:g.127674764G>A , CM000667.1:g.127674764G>A	GRCh37
NC_000005.8:g.127702663G>A	NCBI36
NG_008750.1:g.203972C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.117C>T
ENST00000703785.1:n.198C>T
ENST00000262464.9:c.3344-11C>T MANE Select	ENSP00000262464.4:n.3344-11C>T
ENST00000262464.8:c.3344-11C>T	ENSP00000262464.4:n.3344-11C>T
ENST00000507835.5:c.-118C>T	ENSP00000426839.1:n.-118C>T
ENST00000508053.5:c.3344-11C>T	ENSP00000424571.1:n.3344-11C>T
ENST00000508989.5:c.3245-11C>T	ENSP00000425596.1:n.3245-11C>T
ENST00000619499.4:c.3341-11C>T	ENSP00000482132.1:n.3341-11C>T
NM_001999.3:c.3344-11C>T	NP_001990.2:n.3344-11C>T
XM_017009228.2:c.3191-11C>T	XP_016864717.1:n.3191-11C>T
NM_001999.4:c.3344-11C>T MANE Select	NP_001990.2:n.3344-11C>T