Canonical Allele Identifier: CA360759286

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673727A>G (hg19) ; chr5:g.128338035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338035A>G , CM000667.2:g.128338035A>G	GRCh38
NC_000005.9:g.127673727A>G , CM000667.1:g.127673727A>G	GRCh37
NC_000005.8:g.127701626A>G	NCBI36
NG_008750.1:g.205009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.344T>C
ENST00000703785.1:n.425T>C
ENST00000262464.9:c.3560T>C MANE Select	ENSP00000262464.4:p.Leu1187Pro
ENST00000262464.8:c.3560T>C	ENSP00000262464.4:p.Leu1187Pro
ENST00000507835.5:c.110T>C	ENSP00000426839.1:p.Leu37Pro
ENST00000508053.5:c.3560T>C	ENSP00000424571.1:p.Leu1187Pro
ENST00000508989.5:c.3461T>C	ENSP00000425596.1:p.Leu1154Pro
ENST00000619499.4:c.3557T>C	ENSP00000482132.1:p.Leu1186Pro
NM_001999.3:c.3560T>C	NP_001990.2:p.Leu1187Pro
XM_017009228.2:c.3407T>C	XP_016864717.1:p.Leu1136Pro
NM_001999.4:c.3560T>C MANE Select	NP_001990.2:p.Leu1187Pro