Canonical Allele Identifier: CA3395208

Gene: FBN2

Linked Data

• dbSNP Id: rs763067230
• ExAC: 5:127673784 A / G
• MyVariant Identifiers: chr5:g.127673784A>G (hg19) ; chr5:g.128338092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338092A>G , CM000667.2:g.128338092A>G	GRCh38
NC_000005.9:g.127673784A>G , CM000667.1:g.127673784A>G	GRCh37
NC_000005.8:g.127701683A>G	NCBI36
NG_008750.1:g.204952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.287T>C
ENST00000703785.1:n.368T>C
ENST00000262464.9:c.3503T>C MANE Select	ENSP00000262464.4:p.Leu1168Pro
ENST00000262464.8:c.3503T>C	ENSP00000262464.4:p.Leu1168Pro
ENST00000507835.5:c.53T>C	ENSP00000426839.1:p.Leu18Pro
ENST00000508053.5:c.3503T>C	ENSP00000424571.1:p.Leu1168Pro
ENST00000508989.5:c.3404T>C	ENSP00000425596.1:p.Leu1135Pro
ENST00000619499.4:c.3500T>C	ENSP00000482132.1:p.Leu1167Pro
NM_001999.3:c.3503T>C	NP_001990.2:p.Leu1168Pro
XM_017009228.2:c.3350T>C	XP_016864717.1:p.Leu1117Pro
NM_001999.4:c.3503T>C MANE Select	NP_001990.2:p.Leu1168Pro