Canonical Allele Identifier: CA360754042

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330633-G-C
• MyVariant Identifiers: chr5:g.127666325G>C (hg19) ; chr5:g.128330633G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330633G>C , CM000667.2:g.128330633G>C	GRCh38
NC_000005.9:g.127666325G>C , CM000667.1:g.127666325G>C	GRCh37
NC_000005.8:g.127694224G>C	NCBI36
NG_008750.1:g.212411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1069C>G
ENST00000703785.1:n.1150C>G
ENST00000262464.9:c.4285C>G MANE Select	ENSP00000262464.4:p.Pro1429Ala
ENST00000262464.8:c.4285C>G	ENSP00000262464.4:p.Pro1429Ala
ENST00000507835.5:c.835C>G	ENSP00000426839.1:p.Pro279Ala
ENST00000508053.5:c.4285C>G	ENSP00000424571.1:p.Pro1429Ala
ENST00000508989.5:c.4186C>G	ENSP00000425596.1:p.Pro1396Ala
ENST00000619499.4:c.4282C>G	ENSP00000482132.1:p.Pro1428Ala
NM_001999.3:c.4285C>G	NP_001990.2:p.Pro1429Ala
XM_017009228.2:c.4132C>G	XP_016864717.1:p.Pro1378Ala
NM_001999.4:c.4285C>G MANE Select	NP_001990.2:p.Pro1429Ala