Canonical Allele Identifier: CA360767360

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693007G>C (hg19) ; chr5:g.128357315G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357315G>C , CM000667.2:g.128357315G>C	GRCh38
NC_000005.9:g.127693007G>C , CM000667.1:g.127693007G>C	GRCh37
NC_000005.8:g.127720906G>C	NCBI36
NG_008750.1:g.185729C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2635C>G MANE Select	ENSP00000262464.4:p.Pro879Ala
ENST00000262464.8:c.2635C>G	ENSP00000262464.4:p.Pro879Ala
ENST00000508053.5:c.2635C>G	ENSP00000424571.1:p.Pro879Ala
ENST00000508989.5:c.2536C>G	ENSP00000425596.1:p.Pro846Ala
ENST00000619499.4:c.2632C>G	ENSP00000482132.1:p.Pro878Ala
NM_001999.3:c.2635C>G	NP_001990.2:p.Pro879Ala
XM_017009228.2:c.2482C>G	XP_016864717.1:p.Pro828Ala
NM_001999.4:c.2635C>G MANE Select	NP_001990.2:p.Pro879Ala