Canonical Allele Identifier: CA127007184

Gene: FBN2

Linked Data

• dbSNP Id: rs970202764
• MyVariant Identifiers: chr5:g.127668899A>G (hg19) ; chr5:g.128333207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333207A>G , CM000667.2:g.128333207A>G	GRCh38
NC_000005.9:g.127668899A>G , CM000667.1:g.127668899A>G	GRCh37
NC_000005.8:g.127696798A>G	NCBI36
NG_008750.1:g.209837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-173T>C
ENST00000703785.1:n.965-173T>C
ENST00000262464.9:c.4100-173T>C MANE Select	ENSP00000262464.4:n.4100-173T>C
ENST00000262464.8:c.4100-173T>C	ENSP00000262464.4:n.4100-173T>C
ENST00000507835.5:c.650-173T>C	ENSP00000426839.1:n.650-173T>C
ENST00000508053.5:c.4100-173T>C	ENSP00000424571.1:n.4100-173T>C
ENST00000508989.5:c.4001-173T>C	ENSP00000425596.1:n.4001-173T>C
ENST00000619499.4:c.4097-173T>C	ENSP00000482132.1:n.4097-173T>C
NM_001999.3:c.4100-173T>C	NP_001990.2:n.4100-173T>C
XM_017009228.2:c.3947-173T>C	XP_016864717.1:n.3947-173T>C
NM_001999.4:c.4100-173T>C MANE Select	NP_001990.2:n.4100-173T>C