Canonical Allele Identifier: CA1081358043

Gene: FBN2

Linked Data

• dbSNP Id: rs1749706002
• gnomAD v3: 5-128301208-G-C
• gnomAD v4: 5-128301208-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301208G>C , CM000667.2:g.128301208G>C	GRCh38
NC_000005.9:g.127636900G>C , CM000667.1:g.127636900G>C	GRCh37
NC_000005.8:g.127664799G>C	NCBI36
NG_008750.1:g.241836C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+174C>G
ENST00000703785.1:n.2749+174C>G
ENST00000262464.9:c.6046+174C>G MANE Select	ENSP00000262464.4:n.6046+174C>G
ENST00000262464.8:c.6046+174C>G	ENSP00000262464.4:n.6046+174C>G
ENST00000508053.5:c.6046+174C>G	ENSP00000424571.1:n.6046+174C>G
ENST00000619499.4:c.6043+174C>G	ENSP00000482132.1:n.6043+174C>G
NM_001999.3:c.6046+174C>G	NP_001990.2:n.6046+174C>G
XM_017009228.2:c.5893+174C>G	XP_016864717.1:n.5893+174C>G
NM_001999.4:c.6046+174C>G MANE Select	NP_001990.2:n.6046+174C>G