Canonical Allele Identifier: CA3395245

Gene: FBN2

Linked Data

• dbSNP Id: rs779345186
• ExAC: 5:127674687 C / T
• gnomAD v2: 5-127674687-C-T
• MyVariant Identifiers: chr5:g.127674687C>T (hg19) ; chr5:g.128338995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338995C>T , CM000667.2:g.128338995C>T	GRCh38
NC_000005.9:g.127674687C>T , CM000667.1:g.127674687C>T	GRCh37
NC_000005.8:g.127702586C>T	NCBI36
NG_008750.1:g.204049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.194G>A
ENST00000703785.1:n.275G>A
ENST00000262464.9:c.3410G>A MANE Select	ENSP00000262464.4:p.Ser1137Asn
ENST00000262464.8:c.3410G>A	ENSP00000262464.4:p.Ser1137Asn
ENST00000507835.5:c.-41G>A	ENSP00000426839.1:n.-41G>A
ENST00000508053.5:c.3410G>A	ENSP00000424571.1:p.Ser1137Asn
ENST00000508989.5:c.3311G>A	ENSP00000425596.1:p.Ser1104Asn
ENST00000619499.4:c.3407G>A	ENSP00000482132.1:p.Ser1136Asn
NM_001999.3:c.3410G>A	NP_001990.2:p.Ser1137Asn
XM_017009228.2:c.3257G>A	XP_016864717.1:p.Ser1086Asn
NM_001999.4:c.3410G>A MANE Select	NP_001990.2:p.Ser1137Asn