Canonical Allele Identifier: CA360750758

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127730891T>G (hg19) ; chr5:g.128395198T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395198T>G , CM000667.2:g.128395198T>G	GRCh38
NC_000005.9:g.127730891T>G , CM000667.1:g.127730891T>G	GRCh37
NC_000005.8:g.127758790T>G	NCBI36
NG_008750.1:g.147845A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.862A>C
ENST00000262464.9:c.1155A>C MANE Select	ENSP00000262464.4:p.Lys385Asn
ENST00000262464.8:c.1155A>C	ENSP00000262464.4:p.Lys385Asn
ENST00000508053.5:c.1155A>C	ENSP00000424571.1:p.Lys385Asn
ENST00000508989.5:c.1056A>C	ENSP00000425596.1:p.Lys352Asn
ENST00000619499.4:c.1152A>C	ENSP00000482132.1:p.Lys384Asn
NM_001999.3:c.1155A>C	NP_001990.2:p.Lys385Asn
XM_017009228.2:c.1079-1830A>C	XP_016864717.1:n.1079-1830A>C
NM_001999.4:c.1155A>C MANE Select	NP_001990.2:p.Lys385Asn