Canonical Allele Identifier: CA360754210

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666381T>G (hg19) ; chr5:g.128330689T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330689T>G , CM000667.2:g.128330689T>G	GRCh38
NC_000005.9:g.127666381T>G , CM000667.1:g.127666381T>G	GRCh37
NC_000005.8:g.127694280T>G	NCBI36
NG_008750.1:g.212355A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1013A>C
ENST00000703785.1:n.1094A>C
ENST00000262464.9:c.4229A>C MANE Select	ENSP00000262464.4:p.Asp1410Ala
ENST00000262464.8:c.4229A>C	ENSP00000262464.4:p.Asp1410Ala
ENST00000507835.5:c.779A>C	ENSP00000426839.1:p.Asp260Ala
ENST00000508053.5:c.4229A>C	ENSP00000424571.1:p.Asp1410Ala
ENST00000508989.5:c.4130A>C	ENSP00000425596.1:p.Asp1377Ala
ENST00000619499.4:c.4226A>C	ENSP00000482132.1:p.Asp1409Ala
NM_001999.3:c.4229A>C	NP_001990.2:p.Asp1410Ala
XM_017009228.2:c.4076A>C	XP_016864717.1:p.Asp1359Ala
NM_001999.4:c.4229A>C MANE Select	NP_001990.2:p.Asp1410Ala