Canonical Allele Identifier: CA2675117723

Gene: FBN2

Linked Data

• gnomAD v4: 5-128339066-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339066T>G , CM000667.2:g.128339066T>G	GRCh38
NC_000005.9:g.127674758T>G , CM000667.1:g.127674758T>G	GRCh37
NC_000005.8:g.127702657T>G	NCBI36
NG_008750.1:g.203978A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.123A>C
ENST00000703785.1:n.204A>C
ENST00000262464.9:c.3344-5A>C MANE Select	ENSP00000262464.4:n.3344-5A>C
ENST00000262464.8:c.3344-5A>C	ENSP00000262464.4:n.3344-5A>C
ENST00000507835.5:c.-112A>C	ENSP00000426839.1:n.-112A>C
ENST00000508053.5:c.3344-5A>C	ENSP00000424571.1:n.3344-5A>C
ENST00000508989.5:c.3245-5A>C	ENSP00000425596.1:n.3245-5A>C
ENST00000619499.4:c.3341-5A>C	ENSP00000482132.1:n.3341-5A>C
NM_001999.3:c.3344-5A>C	NP_001990.2:n.3344-5A>C
XM_017009228.2:c.3191-5A>C	XP_016864717.1:n.3191-5A>C
NM_001999.4:c.3344-5A>C MANE Select	NP_001990.2:n.3344-5A>C