Canonical Allele Identifier: CA3395203

Gene: FBN2

Linked Data

• dbSNP Id: rs747553118
• ExAC: 5:127673748 C / G
• gnomAD v2: 5-127673748-C-G
• gnomAD v4: 5-128338056-C-G
• MyVariant Identifiers: chr5:g.127673748C>G (hg19) ; chr5:g.128338056C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338056C>G , CM000667.2:g.128338056C>G	GRCh38
NC_000005.9:g.127673748C>G , CM000667.1:g.127673748C>G	GRCh37
NC_000005.8:g.127701647C>G	NCBI36
NG_008750.1:g.204988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.323G>C
ENST00000703785.1:n.404G>C
ENST00000262464.9:c.3539G>C MANE Select	ENSP00000262464.4:p.Ser1180Thr
ENST00000262464.8:c.3539G>C	ENSP00000262464.4:p.Ser1180Thr
ENST00000507835.5:c.89G>C	ENSP00000426839.1:p.Ser30Thr
ENST00000508053.5:c.3539G>C	ENSP00000424571.1:p.Ser1180Thr
ENST00000508989.5:c.3440G>C	ENSP00000425596.1:p.Ser1147Thr
ENST00000619499.4:c.3536G>C	ENSP00000482132.1:p.Ser1179Thr
NM_001999.3:c.3539G>C	NP_001990.2:p.Ser1180Thr
XM_017009228.2:c.3386G>C	XP_016864717.1:p.Ser1129Thr
NM_001999.4:c.3539G>C MANE Select	NP_001990.2:p.Ser1180Thr