Canonical Allele Identifier: CA521900767
Community Standard Title: NM_001013693.3(LDLRAD2):c.*2170G>A
Gene: LDLRAD2 HGNC NCBI
HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21824385G>A , CM000663.2:g.21824385G>A GRCh38
NC_000001.10:g.22150878G>A , CM000663.1:g.22150878G>A GRCh37
NC_000001.9:g.22023465G>A NCBI36
NG_016740.1:g.117873C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001013693.3:c.*2170G>A (LDLRAD2) MANE Select NP_001013715.2:n.*2170G>A
NM_005529.7:c.12745-9C>T (HSPG2) MANE Select NP_005520.4:n.12745-9C>T
ENST00000344642.7:c.*2170G>A (LDLRAD2) MANE Select ENSP00000340988.2:n.*2170G>A
ENST00000374695.8:c.12745-9C>T (HSPG2) MANE Select ENSP00000363827.3:n.12745-9C>T
NM_001013693.2:c.*2170G>A (LDLRAD2) NP_001013715.2:n.*2170G>A
NM_001291860.1:c.12748-9C>T (HSPG2) NP_001278789.1:n.12748-9C>T
NM_001291860.2:c.12748-9C>T (HSPG2) NP_001278789.1:n.12748-9C>T
NM_005529.6:c.12745-9C>T (HSPG2) NP_005520.4:n.12745-9C>T
ENST00000344642.6:c.*2170G>A (LDLRAD2) ENSP00000340988.2:n.*2170G>A
ENST00000374695.7:c.12745-9C>T (HSPG2) ENSP00000363827.3:n.12745-9C>T
ENST00000486901.1:n.2084-9C>T (HSPG2)
XM_006710594.2:c.13309-9C>T (HSPG2) XP_006710657.1:n.13309-9C>T
XM_006710595.2:c.13261-9C>T (HSPG2) XP_006710658.1:n.13261-9C>T
XM_006710596.2:c.13240-9C>T (HSPG2) XP_006710659.1:n.13240-9C>T
XM_006710597.2:c.12763-9C>T (HSPG2) XP_006710660.1:n.12763-9C>T
XM_011541317.1:c.13312-9C>T (HSPG2) XP_011539619.1:n.13312-9C>T
XM_011541318.1:c.13294-9C>T (HSPG2) XP_011539620.1:n.13294-9C>T
XM_011541318.2:c.13294-9C>T (HSPG2) XP_011539620.1:n.13294-9C>T
XM_011541319.1:c.13189-9C>T (HSPG2) XP_011539621.1:n.13189-9C>T
XM_011541320.1:c.13033-9C>T (HSPG2) XP_011539622.1:n.13033-9C>T
XM_011541321.1:c.12817-9C>T (HSPG2) XP_011539623.1:n.12817-9C>T
XM_017001120.1:c.12940-9C>T (HSPG2) XP_016856609.1:n.12940-9C>T
XM_017001121.1:c.12889-9C>T (HSPG2) XP_016856610.1:n.12889-9C>T
XM_017001122.1:c.12886-9C>T (HSPG2) XP_016856611.1:n.12886-9C>T