Canonical Allele Identifier: CA360759192

Gene: FBN2

Linked Data

• dbSNP Id: rs1750892131
• gnomAD v4: 5-128338020-G-A
• MyVariant Identifiers: chr5:g.127673712G>A (hg19) ; chr5:g.128338020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338020G>A , CM000667.2:g.128338020G>A	GRCh38
NC_000005.9:g.127673712G>A , CM000667.1:g.127673712G>A	GRCh37
NC_000005.8:g.127701611G>A	NCBI36
NG_008750.1:g.205024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.359C>T
ENST00000703785.1:n.440C>T
ENST00000262464.9:c.3575C>T MANE Select	ENSP00000262464.4:p.Ser1192Leu
ENST00000262464.8:c.3575C>T	ENSP00000262464.4:p.Ser1192Leu
ENST00000507835.5:c.125C>T	ENSP00000426839.1:p.Ser42Leu
ENST00000508053.5:c.3575C>T	ENSP00000424571.1:p.Ser1192Leu
ENST00000508989.5:c.3476C>T	ENSP00000425596.1:p.Ser1159Leu
ENST00000619499.4:c.3572C>T	ENSP00000482132.1:p.Ser1191Leu
NM_001999.3:c.3575C>T	NP_001990.2:p.Ser1192Leu
XM_017009228.2:c.3422C>T	XP_016864717.1:p.Ser1141Leu
NM_001999.4:c.3575C>T MANE Select	NP_001990.2:p.Ser1192Leu