Canonical Allele Identifier: CA3394510

Gene: FBN2

Linked Data

• dbSNP Id: rs747566705
• ExAC: 5:127636632 TAGAGAAAAAGA / T
• gnomAD v2: 5-127636632-TAGAGAAAAAGA-T
• gnomAD v4: 5-128300940-TAGAGAAAAAGA-T
• MyVariant Identifiers: chr5:g.127636633_127636643del (hg19) ; chr5:g.128300941_128300951del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300950_128300960del , CM000667.2:g.128300950_128300960del	GRCh38
NC_000005.9:g.127636642_127636652del , CM000667.1:g.127636642_127636652del	GRCh37
NC_000005.8:g.127664541_127664551del	NCBI36
NG_008750.1:g.242093_242103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2831-15_2831-5del
ENST00000703785.1:n.2750-15_2750-5del
ENST00000262464.9:c.6047-15_6047-5del MANE Select	ENSP00000262464.4:n.6047-15_6047-5del
ENST00000262464.8:c.6047-15_6047-5del	ENSP00000262464.4:n.6047-15_6047-5del
ENST00000508053.5:c.6047-15_6047-5del	ENSP00000424571.1:n.6047-15_6047-5del
ENST00000619499.4:c.6044-15_6044-5del	ENSP00000482132.1:n.6044-15_6044-5del
NM_001999.3:c.6047-15_6047-5del	NP_001990.2:n.6047-15_6047-5del
XM_017009228.2:c.5894-15_5894-5del	XP_016864717.1:n.5894-15_5894-5del
NM_001999.4:c.6047-15_6047-5del MANE Select	NP_001990.2:n.6047-15_6047-5del