Canonical Allele Identifier: CA1081363814

Gene: FBN2

Linked Data

• dbSNP Id: rs766016201
• gnomAD v3: 5-128332862-C-G
• gnomAD v4: 5-128332862-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332862C>G , CM000667.2:g.128332862C>G	GRCh38
NC_000005.9:g.127668554C>G , CM000667.1:g.127668554C>G	GRCh37
NC_000005.8:g.127696453C>G	NCBI36
NG_008750.1:g.210182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+50G>C
ENST00000703785.1:n.1087+50G>C
ENST00000262464.9:c.4222+50G>C MANE Select	ENSP00000262464.4:n.4222+50G>C
ENST00000262464.8:c.4222+50G>C	ENSP00000262464.4:n.4222+50G>C
ENST00000507835.5:c.772+50G>C	ENSP00000426839.1:n.772+50G>C
ENST00000508053.5:c.4222+50G>C	ENSP00000424571.1:n.4222+50G>C
ENST00000508989.5:c.4123+50G>C	ENSP00000425596.1:n.4123+50G>C
ENST00000619499.4:c.4219+50G>C	ENSP00000482132.1:n.4219+50G>C
NM_001999.3:c.4222+50G>C	NP_001990.2:n.4222+50G>C
XM_017009228.2:c.4069+50G>C	XP_016864717.1:n.4069+50G>C
NM_001999.4:c.4222+50G>C MANE Select	NP_001990.2:n.4222+50G>C