Canonical Allele Identifier: CA446310563

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338022-C-T
• MyVariant Identifiers: chr5:g.127673714C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338022C>T , CM000667.2:g.128338022C>T	GRCh38
NC_000005.9:g.127673714C>T , CM000667.1:g.127673714C>T	GRCh37
NC_000005.8:g.127701613C>T	NCBI36
NG_008750.1:g.205022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.357G>A
ENST00000703785.1:n.438G>A
ENST00000262464.9:c.3573G>A MANE Select	ENSP00000262464.4:p.Leu1191=
ENST00000262464.8:c.3573G>A	ENSP00000262464.4:p.Leu1191=
ENST00000507835.5:c.123G>A	ENSP00000426839.1:p.Leu41=
ENST00000508053.5:c.3573G>A	ENSP00000424571.1:p.Leu1191=
ENST00000508989.5:c.3474G>A	ENSP00000425596.1:p.Leu1158=
ENST00000619499.4:c.3570G>A	ENSP00000482132.1:p.Leu1190=
NM_001999.3:c.3573G>A	NP_001990.2:p.Leu1191=
XM_017009228.2:c.3420G>A	XP_016864717.1:p.Leu1140=
NM_001999.4:c.3573G>A MANE Select	NP_001990.2:p.Leu1191=