Canonical Allele Identifier: CA10616238

Gene: HTRA2 AUP1

Linked Data

• ClinVar Variation Id: 337123
• ClinVar RCV Id: RCV000320817
• dbSNP Id: rs886056342
• MyVariant Identifiers: chr2:g.74756918G>A (hg19) ; chr2:g.74529791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74529791G>A , CM000664.2:g.74529791G>A	GRCh38
NC_000002.11:g.74756918G>A , CM000664.1:g.74756918G>A	GRCh37
NC_000002.10:g.74610426G>A	NCBI36
NG_012163.1:g.5387G>A
NG_033037.1:g.5057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462909.6:n.67G>A (HTRA2)
ENST00000467961.6:n.67G>A (HTRA2)
ENST00000696725.1:n.196G>A (HTRA2)
ENST00000696726.1:n.13G>A (HTRA2)
ENST00000258080.7:c.-216G>A (HTRA2)	ENSP00000258080.3:n.-216G>A
ENST00000377526.3:c.-162C>T (AUP1)	ENSP00000366748.3:n.-162C>T
ENST00000462909.5:n.67G>A (HTRA2)
ENST00000467961.5:n.17G>A (HTRA2)
NM_013247.4:c.-216G>A (HTRA2)	NP_037379.1:n.-216G>A
NM_145074.2:c.-216G>A (HTRA2)	NP_659540.1:n.-216G>A
NM_181575.4:c.-162C>T (AUP1)	NP_853553.1:n.-162C>T
NR_126510.1:n.107C>T (AUP1)
NR_126511.1:n.107C>T (AUP1)
NM_001321727.1:c.-216G>A (HTRA2)	NP_001308656.1:n.-216G>A
NM_001321728.1:c.-216G>A (HTRA2)	NP_001308657.1:n.-216G>A
NR_135769.1:n.387G>A (HTRA2)
NR_135770.1:n.387G>A (HTRA2)
NR_135771.1:n.387G>A (HTRA2)
NR_135772.1:n.387G>A (HTRA2)