Canonical Allele Identifier: CA3395199

Gene: FBN2

Linked Data

• ClinVar Variation Id: 641153
• ClinVar RCV Id: RCV000794330 ; RCV001759495 ; RCV004027481
• dbSNP Id: rs749905043
• ExAC: 5:127673710 G / A
• gnomAD v2: 5-127673710-G-A
• gnomAD v3: 5-128338018-G-A
• gnomAD v4: 5-128338018-G-A
• MyVariant Identifiers: chr5:g.127673710G>A (hg19) ; chr5:g.128338018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338018G>A , CM000667.2:g.128338018G>A	GRCh38
NC_000005.9:g.127673710G>A , CM000667.1:g.127673710G>A	GRCh37
NC_000005.8:g.127701609G>A	NCBI36
NG_008750.1:g.205026C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.361C>T
ENST00000703785.1:n.442C>T
ENST00000262464.9:c.3577C>T MANE Select	ENSP00000262464.4:p.Pro1193Ser
ENST00000262464.8:c.3577C>T	ENSP00000262464.4:p.Pro1193Ser
ENST00000507835.5:c.127C>T	ENSP00000426839.1:p.Pro43Ser
ENST00000508053.5:c.3577C>T	ENSP00000424571.1:p.Pro1193Ser
ENST00000508989.5:c.3478C>T	ENSP00000425596.1:p.Pro1160Ser
ENST00000619499.4:c.3574C>T	ENSP00000482132.1:p.Pro1192Ser
NM_001999.3:c.3577C>T	NP_001990.2:p.Pro1193Ser
XM_017009228.2:c.3424C>T	XP_016864717.1:p.Pro1142Ser
NM_001999.4:c.3577C>T MANE Select	NP_001990.2:p.Pro1193Ser