Canonical Allele Identifier: CA126982899

Gene: FBN2

Linked Data

• dbSNP Id: rs141005431
• gnomAD v2: 5-127640554-G-C
• gnomAD v3: 5-128304862-G-C
• gnomAD v4: 5-128304862-G-C
• MyVariant Identifiers: chr5:g.127640554G>C (hg19) ; chr5:g.128304862G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304862G>C , CM000667.2:g.128304862G>C	GRCh38
NC_000005.9:g.127640554G>C , CM000667.1:g.127640554G>C	GRCh37
NC_000005.8:g.127668453G>C	NCBI36
NG_008750.1:g.238182C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2584+95C>G
ENST00000703785.1:n.2503+95C>G
ENST00000262464.9:c.5800+95C>G MANE Select	ENSP00000262464.4:n.5800+95C>G
ENST00000262464.8:c.5800+95C>G	ENSP00000262464.4:n.5800+95C>G
ENST00000508053.5:c.5800+95C>G	ENSP00000424571.1:n.5800+95C>G
ENST00000619499.4:c.5797+95C>G	ENSP00000482132.1:n.5797+95C>G
NM_001999.3:c.5800+95C>G	NP_001990.2:n.5800+95C>G
XM_017009228.2:c.5647+95C>G	XP_016864717.1:n.5647+95C>G
NM_001999.4:c.5800+95C>G MANE Select	NP_001990.2:n.5800+95C>G