Canonical Allele Identifier: CA127014890

Gene: FBN2

Linked Data

• dbSNP Id: rs922885864
• gnomAD v3: 5-128338066-T-C
• gnomAD v4: 5-128338066-T-C
• MyVariant Identifiers: chr5:g.127673758T>C (hg19) ; chr5:g.128338066T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338066T>C , CM000667.2:g.128338066T>C	GRCh38
NC_000005.9:g.127673758T>C , CM000667.1:g.127673758T>C	GRCh37
NC_000005.8:g.127701657T>C	NCBI36
NG_008750.1:g.204978A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.313A>G
ENST00000703785.1:n.394A>G
ENST00000262464.9:c.3529A>G MANE Select	ENSP00000262464.4:p.Thr1177Ala
ENST00000262464.8:c.3529A>G	ENSP00000262464.4:p.Thr1177Ala
ENST00000507835.5:c.79A>G	ENSP00000426839.1:p.Thr27Ala
ENST00000508053.5:c.3529A>G	ENSP00000424571.1:p.Thr1177Ala
ENST00000508989.5:c.3430A>G	ENSP00000425596.1:p.Thr1144Ala
ENST00000619499.4:c.3526A>G	ENSP00000482132.1:p.Thr1176Ala
NM_001999.3:c.3529A>G	NP_001990.2:p.Thr1177Ala
XM_017009228.2:c.3376A>G	XP_016864717.1:p.Thr1126Ala
NM_001999.4:c.3529A>G MANE Select	NP_001990.2:p.Thr1177Ala