Canonical Allele Identifier: CA2538878236

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301202_128301203insAAATAAGAAATATCCAAGATGTCAGAAGAGTATCTTTGG , CM000667.2:g.128301202_128301203insAAATAAGAAATATCCAAGATGTCAGAAGAGTATCTTTGG	GRCh38
NC_000005.9:g.127636894_127636895insAAATAAGAAATATCCAAGATGTCAGAAGAGTATCTTTGG , CM000667.1:g.127636894_127636895insAAATAAGAAATATCCAAGATGTCAGAAGAGTATCTTTGG	GRCh37
NC_000005.8:g.127664793_127664794insAAATAAGAAATATCCAAGATGTCAGAAGAGTATCTTTGG	NCBI36
NG_008750.1:g.241841_241842insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+179_2830+180insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT
ENST00000703785.1:n.2749+179_2749+180insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT
ENST00000262464.9:c.6046+179_6046+180insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT MANE Select	ENSP00000262464.4:n.6046+179_6046+180insCCAAAGATACTCTTCTGACAT...
ENST00000262464.8:c.6046+179_6046+180insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT	ENSP00000262464.4:n.6046+179_6046+180insCCAAAGATACTCTTCTGACAT...
ENST00000508053.5:c.6046+179_6046+180insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT	ENSP00000424571.1:n.6046+179_6046+180insCCAAAGATACTCTTCTGACAT...
ENST00000619499.4:c.6043+179_6043+180insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT	ENSP00000482132.1:n.6043+179_6043+180insCCAAAGATACTCTTCTGACAT...
NM_001999.3:c.6046+179_6046+180insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT	NP_001990.2:n.6046+179_6046+180insCCAAAGATACTCTTCTGACATCTTGGA...
XM_017009228.2:c.5893+179_5893+180insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT	XP_016864717.1:n.5893+179_5893+180insCCAAAGATACTCTTCTGACATCTT...
NM_001999.4:c.6046+179_6046+180insCCAAAGATACTCTTCTGACATCTTGGATATTTCTTATTT MANE Select	NP_001990.2:n.6046+179_6046+180insCCAAAGATACTCTTCTGACATCTTGGA...