Canonical Allele Identifier: CA360757940

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671169C>G (hg19) ; chr5:g.128335477C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335477C>G , CM000667.2:g.128335477C>G	GRCh38
NC_000005.9:g.127671169C>G , CM000667.1:g.127671169C>G	GRCh37
NC_000005.8:g.127699068C>G	NCBI36
NG_008750.1:g.207567G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.609G>C
ENST00000703785.1:n.690G>C
ENST00000262464.9:c.3825G>C MANE Select	ENSP00000262464.4:p.Met1275Ile
ENST00000262464.8:c.3825G>C	ENSP00000262464.4:p.Met1275Ile
ENST00000507835.5:c.375G>C	ENSP00000426839.1:p.Met125Ile
ENST00000508053.5:c.3825G>C	ENSP00000424571.1:p.Met1275Ile
ENST00000508989.5:c.3726G>C	ENSP00000425596.1:p.Met1242Ile
ENST00000619499.4:c.3822G>C	ENSP00000482132.1:p.Met1274Ile
NM_001999.3:c.3825G>C	NP_001990.2:p.Met1275Ile
XM_017009228.2:c.3672G>C	XP_016864717.1:p.Met1224Ile
NM_001999.4:c.3825G>C MANE Select	NP_001990.2:p.Met1275Ile