Allele Registry

Canonical Allele Identifier: CA129851

Gene: LTBP2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr14:g.74503252G>A

GRCh37 chr14:g.74969955G>A

Linked Data - Sequence & Population

gnomAD v4:

chr14-74503252-G-A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000024327

ClinVar Variation:

31629

dbSNP:

387907174

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503252G>A , CM000676.2:g.74503252G>A	GRCh38
NC_000014.8:g.74969955G>A , CM000676.1:g.74969955G>A	GRCh37
NC_000014.7:g.74039708G>A	NCBI36
NG_021486.1:g.114080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4855C>T MANE Select	ENSP00000261978.4:p.Gln1619Ter
ENST00000261978.8:c.4855C>T	ENSP00000261978.4:p.Gln1619Ter
ENST00000553939.5:c.4855C>T	ENSP00000452110.1:p.Gln1619Ter
ENST00000556690.5:c.4723C>T	ENSP00000451477.1:p.Gln1575Ter
NM_000428.2:c.4855C>T	NP_000419.1:p.Gln1619Ter
XM_011536765.1:c.4474C>T	XP_011535067.1:p.Gln1492Ter
XM_011536766.1:c.4396C>T	XP_011535068.1:p.Gln1466Ter
XM_011536767.1:c.4372C>T	XP_011535069.1:p.Gln1458Ter
XM_011536765.2:c.4474C>T	XP_011535067.1:p.Gln1492Ter
NM_000428.3:c.4855C>T MANE Select	NP_000419.1:p.Gln1619Ter

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