Canonical Allele Identifier: CA3394607

Gene: FBN2

Linked Data

• dbSNP Id: rs774686976
• ExAC: 5:127640720 T / C
• gnomAD v2: 5-127640720-T-C
• MyVariant Identifiers: chr5:g.127640720T>C (hg19) ; chr5:g.128305028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305028T>C , CM000667.2:g.128305028T>C	GRCh38
NC_000005.9:g.127640720T>C , CM000667.1:g.127640720T>C	GRCh37
NC_000005.8:g.127668619T>C	NCBI36
NG_008750.1:g.238016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2513A>G
ENST00000703785.1:n.2432A>G
ENST00000262464.9:c.5729A>G MANE Select	ENSP00000262464.4:p.Asp1910Gly
ENST00000262464.8:c.5729A>G	ENSP00000262464.4:p.Asp1910Gly
ENST00000508053.5:c.5729A>G	ENSP00000424571.1:p.Asp1910Gly
ENST00000619499.4:c.5726A>G	ENSP00000482132.1:p.Asp1909Gly
NM_001999.3:c.5729A>G	NP_001990.2:p.Asp1910Gly
XM_017009228.2:c.5576A>G	XP_016864717.1:p.Asp1859Gly
NM_001999.4:c.5729A>G MANE Select	NP_001990.2:p.Asp1910Gly