Canonical Allele Identifier: CA360758119

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671249T>G (hg19) ; chr5:g.128335557T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335557T>G , CM000667.2:g.128335557T>G	GRCh38
NC_000005.9:g.127671249T>G , CM000667.1:g.127671249T>G	GRCh37
NC_000005.8:g.127699148T>G	NCBI36
NG_008750.1:g.207487A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.529A>C
ENST00000703785.1:n.610A>C
ENST00000262464.9:c.3745A>C MANE Select	ENSP00000262464.4:p.Met1249Leu
ENST00000262464.8:c.3745A>C	ENSP00000262464.4:p.Met1249Leu
ENST00000507835.5:c.295A>C	ENSP00000426839.1:p.Met99Leu
ENST00000508053.5:c.3745A>C	ENSP00000424571.1:p.Met1249Leu
ENST00000508989.5:c.3646A>C	ENSP00000425596.1:p.Met1216Leu
ENST00000619499.4:c.3742A>C	ENSP00000482132.1:p.Met1248Leu
NM_001999.3:c.3745A>C	NP_001990.2:p.Met1249Leu
XM_017009228.2:c.3592A>C	XP_016864717.1:p.Met1198Leu
NM_001999.4:c.3745A>C MANE Select	NP_001990.2:p.Met1249Leu