Canonical Allele Identifier: CA127014906

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1677537
• ClinVar RCV Id: RCV002224279
• dbSNP Id: rs931046977
• gnomAD v2: 5-127673772-C-G
• gnomAD v4: 5-128338080-C-G
• MyVariant Identifiers: chr5:g.127673772C>G (hg19) ; chr5:g.128338080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338080C>G , CM000667.2:g.128338080C>G	GRCh38
NC_000005.9:g.127673772C>G , CM000667.1:g.127673772C>G	GRCh37
NC_000005.8:g.127701671C>G	NCBI36
NG_008750.1:g.204964G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.299G>C
ENST00000703785.1:n.380G>C
ENST00000262464.9:c.3515G>C MANE Select	ENSP00000262464.4:p.Gly1172Ala
ENST00000262464.8:c.3515G>C	ENSP00000262464.4:p.Gly1172Ala
ENST00000507835.5:c.65G>C	ENSP00000426839.1:p.Gly22Ala
ENST00000508053.5:c.3515G>C	ENSP00000424571.1:p.Gly1172Ala
ENST00000508989.5:c.3416G>C	ENSP00000425596.1:p.Gly1139Ala
ENST00000619499.4:c.3512G>C	ENSP00000482132.1:p.Gly1171Ala
NM_001999.3:c.3515G>C	NP_001990.2:p.Gly1172Ala
XM_017009228.2:c.3362G>C	XP_016864717.1:p.Gly1121Ala
NM_001999.4:c.3515G>C MANE Select	NP_001990.2:p.Gly1172Ala