Canonical Allele Identifier: CA360759527

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338101-T-C
• MyVariant Identifiers: chr5:g.127673793T>C (hg19) ; chr5:g.128338101T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338101T>C , CM000667.2:g.128338101T>C	GRCh38
NC_000005.9:g.127673793T>C , CM000667.1:g.127673793T>C	GRCh37
NC_000005.8:g.127701692T>C	NCBI36
NG_008750.1:g.204943A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.278A>G
ENST00000703785.1:n.359A>G
ENST00000262464.9:c.3494A>G MANE Select	ENSP00000262464.4:p.Asn1165Ser
ENST00000262464.8:c.3494A>G	ENSP00000262464.4:p.Asn1165Ser
ENST00000507835.5:c.44A>G	ENSP00000426839.1:p.Asn15Ser
ENST00000508053.5:c.3494A>G	ENSP00000424571.1:p.Asn1165Ser
ENST00000508989.5:c.3395A>G	ENSP00000425596.1:p.Asn1132Ser
ENST00000619499.4:c.3491A>G	ENSP00000482132.1:p.Asn1164Ser
NM_001999.3:c.3494A>G	NP_001990.2:p.Asn1165Ser
XM_017009228.2:c.3341A>G	XP_016864717.1:p.Asn1114Ser
NM_001999.4:c.3494A>G MANE Select	NP_001990.2:p.Asn1165Ser