Canonical Allele Identifier: CA3395096

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335179T>C , CM000667.2:g.128335179T>C	GRCh38
NC_000005.9:g.127670871T>C , CM000667.1:g.127670871T>C	GRCh37
NC_000005.8:g.127698770T>C	NCBI36
NG_008750.1:g.207865A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3964A>G MANE Select	NP_001990.2:p.Thr1322Ala
ENST00000262464.9:c.3964A>G MANE Select	ENSP00000262464.4:p.Thr1322Ala
NM_001999.3:c.3964A>G	NP_001990.2:p.Thr1322Ala
ENST00000262464.8:c.3964A>G	ENSP00000262464.4:p.Thr1322Ala
ENST00000507835.5:c.514A>G	ENSP00000426839.1:p.Thr172Ala
ENST00000508053.5:c.3964A>G	ENSP00000424571.1:p.Thr1322Ala
ENST00000508989.5:c.3865A>G	ENSP00000425596.1:p.Thr1289Ala
ENST00000619499.4:c.3961A>G	ENSP00000482132.1:p.Thr1321Ala
ENST00000703783.1:n.748A>G
ENST00000703785.1:n.829A>G
XM_017009228.2:c.3811A>G	XP_016864717.1:p.Thr1271Ala