Canonical Allele Identifier: CA347378276

Gene: HTRA2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74530427G>A , CM000664.2:g.74530427G>A	GRCh38
NC_000002.11:g.74757554G>A , CM000664.1:g.74757554G>A	GRCh37
NC_000002.10:g.74611062G>A	NCBI36
NG_012163.1:g.6023G>A
NG_033037.1:g.4421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437202.2:c.421G>A	ENSP00000399166.2:p.Ala141Thr
ENST00000462909.6:n.189-18G>A
ENST00000465521.2:n.2G>A
ENST00000467961.6:n.189-34G>A
ENST00000484881.6:n.92-190G>A
ENST00000696725.1:n.318-14G>A
ENST00000696726.1:n.135-190G>A
ENST00000696727.1:c.421G>A	ENSP00000512836.1:p.Ala141Thr
ENST00000696728.1:c.421G>A	ENSP00000512837.1:p.Ala141Thr
ENST00000696729.1:n.26G>A
ENST00000696730.1:n.8G>A
ENST00000258080.8:c.421G>A MANE Select	ENSP00000258080.3:p.Ala141Thr
ENST00000258080.7:c.421G>A	ENSP00000258080.3:p.Ala141Thr
ENST00000352222.7:c.421G>A	ENSP00000312893.3:p.Ala141Thr
ENST00000437202.1:c.382G>A	ENSP00000399166.1:p.Ala128Thr
ENST00000462909.5:n.189-18G>A
ENST00000465521.1:n.2G>A
ENST00000467961.5:n.139-34G>A
ENST00000484352.5:n.259G>A
ENST00000484881.5:n.92-190G>A
NM_013247.4:c.421G>A	NP_037379.1:p.Ala141Thr
NM_145074.2:c.421G>A	NP_659540.1:p.Ala141Thr
XM_005264266.2:c.421G>A	XP_005264323.1:p.Ala141Thr
NM_001321727.1:c.421G>A	NP_001308656.1:p.Ala141Thr
NM_001321728.1:c.421G>A	NP_001308657.1:p.Ala141Thr
NR_135769.1:n.1023G>A
NR_135770.1:n.509-18G>A
NR_135771.1:n.509-34G>A
NR_135772.1:n.509-14G>A
NM_013247.5:c.421G>A MANE Select	NP_037379.1:p.Ala141Thr