Canonical Allele Identifier: CA3395210

Gene: FBN2

Linked Data

• ClinVar Variation Id: 626105
• ClinVar RCV Id: RCV000768221
• dbSNP Id: rs774250442
• ExAC: 5:127673792 G / T
• gnomAD v2: 5-127673792-G-T
• gnomAD v4: 5-128338100-G-T
• MyVariant Identifiers: chr5:g.127673792G>T (hg19) ; chr5:g.128338100G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338100G>T , CM000667.2:g.128338100G>T	GRCh38
NC_000005.9:g.127673792G>T , CM000667.1:g.127673792G>T	GRCh37
NC_000005.8:g.127701691G>T	NCBI36
NG_008750.1:g.204944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.279C>A
ENST00000703785.1:n.360C>A
ENST00000262464.9:c.3495C>A MANE Select	ENSP00000262464.4:p.Asn1165Lys
ENST00000262464.8:c.3495C>A	ENSP00000262464.4:p.Asn1165Lys
ENST00000507835.5:c.45C>A	ENSP00000426839.1:p.Asn15Lys
ENST00000508053.5:c.3495C>A	ENSP00000424571.1:p.Asn1165Lys
ENST00000508989.5:c.3396C>A	ENSP00000425596.1:p.Asn1132Lys
ENST00000619499.4:c.3492C>A	ENSP00000482132.1:p.Asn1164Lys
NM_001999.3:c.3495C>A	NP_001990.2:p.Asn1165Lys
XM_017009228.2:c.3342C>A	XP_016864717.1:p.Asn1114Lys
NM_001999.4:c.3495C>A MANE Select	NP_001990.2:p.Asn1165Lys