Canonical Allele Identifier: CA446310564
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127673714C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338022C>G , CM000667.2:g.128338022C>G GRCh38
NC_000005.9:g.127673714C>G , CM000667.1:g.127673714C>G GRCh37
NC_000005.8:g.127701613C>G NCBI36
NG_008750.1:g.205022G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.357G>C
ENST00000703785.1:n.438G>C
ENST00000262464.9:c.3573G>C MANE Select ENSP00000262464.4:p.Leu1191=
ENST00000262464.8:c.3573G>C ENSP00000262464.4:p.Leu1191=
ENST00000507835.5:c.123G>C ENSP00000426839.1:p.Leu41=
ENST00000508053.5:c.3573G>C ENSP00000424571.1:p.Leu1191=
ENST00000508989.5:c.3474G>C ENSP00000425596.1:p.Leu1158=
ENST00000619499.4:c.3570G>C ENSP00000482132.1:p.Leu1190=
NM_001999.3:c.3573G>C NP_001990.2:p.Leu1191=
XM_017009228.2:c.3420G>C XP_016864717.1:p.Leu1140=
NM_001999.4:c.3573G>C MANE Select NP_001990.2:p.Leu1191=