Canonical Allele Identifier: CA562714979

Gene: FBN2

Linked Data

• dbSNP Id: rs1300082289
• gnomAD v2: 5-127668971-G-C
• gnomAD v3: 5-128333279-G-C
• gnomAD v4: 5-128333279-G-C
• MyVariant Identifiers: chr5:g.127668971G>C (hg19) ; chr5:g.128333279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333279G>C , CM000667.2:g.128333279G>C	GRCh38
NC_000005.9:g.127668971G>C , CM000667.1:g.127668971G>C	GRCh37
NC_000005.8:g.127696870G>C	NCBI36
NG_008750.1:g.209765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-245C>G
ENST00000703785.1:n.965-245C>G
ENST00000262464.9:c.4100-245C>G MANE Select	ENSP00000262464.4:n.4100-245C>G
ENST00000262464.8:c.4100-245C>G	ENSP00000262464.4:n.4100-245C>G
ENST00000507835.5:c.650-245C>G	ENSP00000426839.1:n.650-245C>G
ENST00000508053.5:c.4100-245C>G	ENSP00000424571.1:n.4100-245C>G
ENST00000508989.5:c.4001-245C>G	ENSP00000425596.1:n.4001-245C>G
ENST00000619499.4:c.4097-245C>G	ENSP00000482132.1:n.4097-245C>G
NM_001999.3:c.4100-245C>G	NP_001990.2:n.4100-245C>G
XM_017009228.2:c.3947-245C>G	XP_016864717.1:n.3947-245C>G
NM_001999.4:c.4100-245C>G MANE Select	NP_001990.2:n.4100-245C>G