Canonical Allele Identifier: CA360767468

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693054T>G (hg19) ; chr5:g.128357362T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357362T>G , CM000667.2:g.128357362T>G	GRCh38
NC_000005.9:g.127693054T>G , CM000667.1:g.127693054T>G	GRCh37
NC_000005.8:g.127720953T>G	NCBI36
NG_008750.1:g.185682A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2588A>C MANE Select	ENSP00000262464.4:p.Asn863Thr
ENST00000262464.8:c.2588A>C	ENSP00000262464.4:p.Asn863Thr
ENST00000508053.5:c.2588A>C	ENSP00000424571.1:p.Asn863Thr
ENST00000508989.5:c.2489A>C	ENSP00000425596.1:p.Asn830Thr
ENST00000619499.4:c.2585A>C	ENSP00000482132.1:p.Asn862Thr
NM_001999.3:c.2588A>C	NP_001990.2:p.Asn863Thr
XM_017009228.2:c.2435A>C	XP_016864717.1:p.Asn812Thr
NM_001999.4:c.2588A>C MANE Select	NP_001990.2:p.Asn863Thr