Canonical Allele Identifier: CA320216

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261861G>C , CM000667.2:g.128261861G>C	GRCh38
NC_000005.9:g.127597553G>C , CM000667.1:g.127597553G>C	GRCh37
NC_000005.8:g.127625452G>C	NCBI36
NG_008750.1:g.281183C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.8239C>G MANE Select	NP_001990.2:p.Leu2747Val
ENST00000262464.9:c.8239C>G MANE Select	ENSP00000262464.4:p.Leu2747Val
NM_001999.3:c.8239C>G	NP_001990.2:p.Leu2747Val
ENST00000262464.8:c.8239C>G	ENSP00000262464.4:p.Leu2747Val
ENST00000508053.5:c.8239C>G	ENSP00000424571.1:p.Leu2747Val
ENST00000619499.4:c.8236C>G	ENSP00000482132.1:p.Leu2746Val
XM_017009228.2:c.8086C>G	XP_016864717.1:p.Leu2696Val