Canonical Allele Identifier: CA360757306

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670873T>C (hg19) ; chr5:g.128335181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335181T>C , CM000667.2:g.128335181T>C	GRCh38
NC_000005.9:g.127670873T>C , CM000667.1:g.127670873T>C	GRCh37
NC_000005.8:g.127698772T>C	NCBI36
NG_008750.1:g.207863A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.746A>G
ENST00000703785.1:n.827A>G
ENST00000262464.9:c.3962A>G MANE Select	ENSP00000262464.4:p.Lys1321Arg
ENST00000262464.8:c.3962A>G	ENSP00000262464.4:p.Lys1321Arg
ENST00000507835.5:c.512A>G	ENSP00000426839.1:p.Lys171Arg
ENST00000508053.5:c.3962A>G	ENSP00000424571.1:p.Lys1321Arg
ENST00000508989.5:c.3863A>G	ENSP00000425596.1:p.Lys1288Arg
ENST00000619499.4:c.3959A>G	ENSP00000482132.1:p.Lys1320Arg
NM_001999.3:c.3962A>G	NP_001990.2:p.Lys1321Arg
XM_017009228.2:c.3809A>G	XP_016864717.1:p.Lys1270Arg
NM_001999.4:c.3962A>G MANE Select	NP_001990.2:p.Lys1321Arg