Canonical Allele Identifier: CA360759231

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673718T>G (hg19) ; chr5:g.128338026T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338026T>G , CM000667.2:g.128338026T>G	GRCh38
NC_000005.9:g.127673718T>G , CM000667.1:g.127673718T>G	GRCh37
NC_000005.8:g.127701617T>G	NCBI36
NG_008750.1:g.205018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.353A>C
ENST00000703785.1:n.434A>C
ENST00000262464.9:c.3569A>C MANE Select	ENSP00000262464.4:p.Glu1190Ala
ENST00000262464.8:c.3569A>C	ENSP00000262464.4:p.Glu1190Ala
ENST00000507835.5:c.119A>C	ENSP00000426839.1:p.Glu40Ala
ENST00000508053.5:c.3569A>C	ENSP00000424571.1:p.Glu1190Ala
ENST00000508989.5:c.3470A>C	ENSP00000425596.1:p.Glu1157Ala
ENST00000619499.4:c.3566A>C	ENSP00000482132.1:p.Glu1189Ala
NM_001999.3:c.3569A>C	NP_001990.2:p.Glu1190Ala
XM_017009228.2:c.3416A>C	XP_016864717.1:p.Glu1139Ala
NM_001999.4:c.3569A>C MANE Select	NP_001990.2:p.Glu1190Ala