Canonical Allele Identifier: CA7268656

Gene: LTBP2

Linked Data

• dbSNP Id: rs756838768
• ExAC: 14:74970119 G / A
• gnomAD v2: 14-74970119-G-A
• gnomAD v4: 14-74503416-G-A
• MyVariant Identifiers: chr14:g.74970119G>A (hg19) ; chr14:g.74503416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503416G>A , CM000676.2:g.74503416G>A	GRCh38
NC_000014.8:g.74970119G>A , CM000676.1:g.74970119G>A	GRCh37
NC_000014.7:g.74039872G>A	NCBI36
NG_021486.1:g.113916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.4721-30C>T MANE Select	ENSP00000261978.4:n.4721-30C>T
ENST00000261978.8:c.4721-30C>T	ENSP00000261978.4:n.4721-30C>T
ENST00000553939.5:c.4721-30C>T	ENSP00000452110.1:n.4721-30C>T
ENST00000556690.5:c.4589-30C>T	ENSP00000451477.1:n.4589-30C>T
NM_000428.2:c.4721-30C>T	NP_000419.1:n.4721-30C>T
XM_011536765.1:c.4340-30C>T	XP_011535067.1:n.4340-30C>T
XM_011536766.1:c.4262-30C>T	XP_011535068.1:n.4262-30C>T
XM_011536767.1:c.4238-30C>T	XP_011535069.1:n.4238-30C>T
XM_011536765.2:c.4340-30C>T	XP_011535067.1:n.4340-30C>T
NM_000428.3:c.4721-30C>T MANE Select	NP_000419.1:n.4721-30C>T