Canonical Allele Identifier: CA562712561

Gene: FBN2

Linked Data

• dbSNP Id: rs1410012943
• gnomAD v2: 5-127652923-TTTTA-T
• gnomAD v3: 5-128317231-TTTTA-T
• gnomAD v4: 5-128317231-TTTTA-T
• MyVariant Identifiers: chr5:g.127652924_127652927del (hg19) ; chr5:g.128317232_128317235del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317237_128317240del , CM000667.2:g.128317237_128317240del	GRCh38
NC_000005.9:g.127652929_127652932del , CM000667.1:g.127652929_127652932del	GRCh37
NC_000005.8:g.127680828_127680831del	NCBI36
NG_008750.1:g.225809_225812del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1501+914_1501+917del
ENST00000703785.1:n.1582+914_1582+917del
ENST00000262464.9:c.4717+914_4717+917del MANE Select	ENSP00000262464.4:n.4717+914_4717+917del
ENST00000262464.8:c.4717+914_4717+917del	ENSP00000262464.4:n.4717+914_4717+917del
ENST00000508053.5:c.4717+914_4717+917del	ENSP00000424571.1:n.4717+914_4717+917del
ENST00000619499.4:c.4714+914_4714+917del	ENSP00000482132.1:n.4714+914_4714+917del
NM_001999.3:c.4717+914_4717+917del	NP_001990.2:n.4717+914_4717+917del
XM_017009228.2:c.4564+914_4564+917del	XP_016864717.1:n.4564+914_4564+917del
NM_001999.4:c.4717+914_4717+917del MANE Select	NP_001990.2:n.4717+914_4717+917del