Canonical Allele Identifier: CA390387950

Gene: LTBP2

Linked Data

• gnomAD v4: 14-74611620-C-A
• MyVariant Identifiers: chr14:g.75078323C>A (hg19) ; chr14:g.74611620C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74611620C>A , CM000676.2:g.74611620C>A	GRCh38
NC_000014.8:g.75078323C>A , CM000676.1:g.75078323C>A	GRCh37
NC_000014.7:g.74148076C>A	NCBI36
NG_021486.1:g.5712G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.325G>T MANE Select	ENSP00000261978.4:p.Ala109Ser
ENST00000261978.8:c.325G>T	ENSP00000261978.4:p.Ala109Ser
ENST00000553939.5:c.325G>T	ENSP00000452110.1:p.Ala109Ser
ENST00000556690.5:c.325G>T	ENSP00000451477.1:p.Ala109Ser
ENST00000557425.1:n.123+426G>T
NM_000428.2:c.325G>T	NP_000419.1:p.Ala109Ser
XM_011536765.1:c.325G>T	XP_011535067.1:p.Ala109Ser
XM_011536767.1:c.11+6964G>T	XP_011535069.1:n.11+6964G>T
XM_011536765.2:c.325G>T	XP_011535067.1:p.Ala109Ser
NM_000428.3:c.325G>T MANE Select	NP_000419.1:p.Ala109Ser