Canonical Allele Identifier: CA446306385

Gene: FBN2

Linked Data

• dbSNP Id: rs1554119724
• MyVariant Identifiers: chr5:g.127640724_127640728del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305032_128305036del , CM000667.2:g.128305032_128305036del	GRCh38
NC_000005.9:g.127640724_127640728del , CM000667.1:g.127640724_127640728del	GRCh37
NC_000005.8:g.127668623_127668627del	NCBI36
NG_008750.1:g.238008_238012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2505_2509del
ENST00000703785.1:n.2424_2428del
ENST00000262464.9:c.5721_5725del MANE Select	ENSP00000262464.4:p.Leu1907PhefsTer2
ENST00000262464.8:c.5721_5725del	ENSP00000262464.4:p.Leu1907PhefsTer2
ENST00000508053.5:c.5721_5725del	ENSP00000424571.1:p.Leu1907PhefsTer2
ENST00000619499.4:c.5718_5722del	ENSP00000482132.1:p.Leu1906PhefsTer2
NM_001999.3:c.5721_5725del	NP_001990.2:p.Leu1907PhefsTer2
XM_017009228.2:c.5568_5572del	XP_016864717.1:p.Leu1856PhefsTer2
NM_001999.4:c.5721_5725del MANE Select	NP_001990.2:p.Leu1907PhefsTer2