Canonical Allele Identifier: CA320216

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213255
• ClinVar RCV Id: RCV000195837 ; RCV000284862 ; RCV002277513 ; RCV002310776 ; RCV002500602
• dbSNP Id: rs145353444
• ExAC: 5:127597553 G / C
• gnomAD v2: 5-127597553-G-C
• gnomAD v3: 5-128261861-G-C
• gnomAD v4: 5-128261861-G-C
• MyVariant Identifiers: chr5:g.127597553G>C (hg19) ; chr5:g.128261861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261861G>C , CM000667.2:g.128261861G>C	GRCh38
NC_000005.9:g.127597553G>C , CM000667.1:g.127597553G>C	GRCh37
NC_000005.8:g.127625452G>C	NCBI36
NG_008750.1:g.281183C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8239C>G MANE Select	ENSP00000262464.4:p.Leu2747Val
ENST00000262464.8:c.8239C>G	ENSP00000262464.4:p.Leu2747Val
ENST00000508053.5:c.8239C>G	ENSP00000424571.1:p.Leu2747Val
ENST00000619499.4:c.8236C>G	ENSP00000482132.1:p.Leu2746Val
NM_001999.3:c.8239C>G	NP_001990.2:p.Leu2747Val
XM_017009228.2:c.8086C>G	XP_016864717.1:p.Leu2696Val
NM_001999.4:c.8239C>G MANE Select	NP_001990.2:p.Leu2747Val