Canonical Allele Identifier: CA126994955

Gene: FBN2

Linked Data

• dbSNP Id: rs373239813
• gnomAD v2: 5-127652976-T-C
• gnomAD v3: 5-128317284-T-C
• gnomAD v4: 5-128317284-T-C
• MyVariant Identifiers: chr5:g.127652976T>C (hg19) ; chr5:g.128317284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317284T>C , CM000667.2:g.128317284T>C	GRCh38
NC_000005.9:g.127652976T>C , CM000667.1:g.127652976T>C	GRCh37
NC_000005.8:g.127680875T>C	NCBI36
NG_008750.1:g.225760A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1501+865A>G
ENST00000703785.1:n.1582+865A>G
ENST00000262464.9:c.4717+865A>G MANE Select	ENSP00000262464.4:n.4717+865A>G
ENST00000262464.8:c.4717+865A>G	ENSP00000262464.4:n.4717+865A>G
ENST00000508053.5:c.4717+865A>G	ENSP00000424571.1:n.4717+865A>G
ENST00000619499.4:c.4714+865A>G	ENSP00000482132.1:n.4714+865A>G
NM_001999.3:c.4717+865A>G	NP_001990.2:n.4717+865A>G
XM_017009228.2:c.4564+865A>G	XP_016864717.1:n.4564+865A>G
NM_001999.4:c.4717+865A>G MANE Select	NP_001990.2:n.4717+865A>G