Canonical Allele Identifier: CA360754921

Gene: FBN2

Linked Data

• gnomAD v4: 5-128332959-T-C
• MyVariant Identifiers: chr5:g.127668651T>C (hg19) ; chr5:g.128332959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332959T>C , CM000667.2:g.128332959T>C	GRCh38
NC_000005.9:g.127668651T>C , CM000667.1:g.127668651T>C	GRCh37
NC_000005.8:g.127696550T>C	NCBI36
NG_008750.1:g.210085A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.959A>G
ENST00000703785.1:n.1040A>G
ENST00000262464.9:c.4175A>G MANE Select	ENSP00000262464.4:p.Lys1392Arg
ENST00000262464.8:c.4175A>G	ENSP00000262464.4:p.Lys1392Arg
ENST00000507835.5:c.725A>G	ENSP00000426839.1:p.Lys242Arg
ENST00000508053.5:c.4175A>G	ENSP00000424571.1:p.Lys1392Arg
ENST00000508989.5:c.4076A>G	ENSP00000425596.1:p.Lys1359Arg
ENST00000619499.4:c.4172A>G	ENSP00000482132.1:p.Lys1391Arg
NM_001999.3:c.4175A>G	NP_001990.2:p.Lys1392Arg
XM_017009228.2:c.4022A>G	XP_016864717.1:p.Lys1341Arg
NM_001999.4:c.4175A>G MANE Select	NP_001990.2:p.Lys1392Arg