Canonical Allele Identifier: CA360757284

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670863A>C (hg19) ; chr5:g.128335171A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335171A>C , CM000667.2:g.128335171A>C	GRCh38
NC_000005.9:g.127670863A>C , CM000667.1:g.127670863A>C	GRCh37
NC_000005.8:g.127698762A>C	NCBI36
NG_008750.1:g.207873T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.756T>G
ENST00000703785.1:n.837T>G
ENST00000262464.9:c.3972T>G MANE Select	ENSP00000262464.4:p.Ile1324Met
ENST00000262464.8:c.3972T>G	ENSP00000262464.4:p.Ile1324Met
ENST00000507835.5:c.522T>G	ENSP00000426839.1:p.Ile174Met
ENST00000508053.5:c.3972T>G	ENSP00000424571.1:p.Ile1324Met
ENST00000508989.5:c.3873T>G	ENSP00000425596.1:p.Ile1291Met
ENST00000619499.4:c.3969T>G	ENSP00000482132.1:p.Ile1323Met
NM_001999.3:c.3972T>G	NP_001990.2:p.Ile1324Met
XM_017009228.2:c.3819T>G	XP_016864717.1:p.Ile1273Met
NM_001999.4:c.3972T>G MANE Select	NP_001990.2:p.Ile1324Met