Canonical Allele Identifier: CA10644907

Gene: LTBP2

Linked Data

• ClinVar Variation Id: 314260
• ClinVar RCV Id: RCV000283897 ; RCV000378439
• dbSNP Id: rs192723743
• gnomAD v3: 14-74500678-G-A
• gnomAD v4: 14-74500678-G-A
• MyVariant Identifiers: chr14:g.74967381G>A (hg19) ; chr14:g.74500678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500678G>A , CM000676.2:g.74500678G>A	GRCh38
NC_000014.8:g.74967381G>A , CM000676.1:g.74967381G>A	GRCh37
NC_000014.7:g.74037134G>A	NCBI36
NG_021486.1:g.116654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.*206C>T MANE Select	ENSP00000261978.4:n.*206C>T
ENST00000261978.8:c.*206C>T	ENSP00000261978.4:n.*206C>T
ENST00000553939.5:c.*451C>T	ENSP00000452110.1:n.*451C>T
NM_000428.2:c.*206C>T	NP_000419.1:n.*206C>T
XM_011536765.1:c.*206C>T	XP_011535067.1:n.*206C>T
XM_011536766.1:c.*206C>T	XP_011535068.1:n.*206C>T
XM_011536767.1:c.*206C>T	XP_011535069.1:n.*206C>T
XM_011536765.2:c.*206C>T	XP_011535067.1:n.*206C>T
NM_000428.3:c.*206C>T MANE Select	NP_000419.1:n.*206C>T