Canonical Allele Identifier: CA351412961

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707145A>T (hg19) ; chr2:g.241767730A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767730A>T , CM000664.2:g.241767730A>T	GRCh38
NC_000002.11:g.242707145A>T , CM000664.1:g.242707145A>T	GRCh37
NC_000002.10:g.242355818A>T	NCBI36
NG_012012.1:g.38116A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1327A>T MANE Select	ENSP00000315351.4:p.Asn443Tyr
ENST00000321264.8:c.1327A>T	ENSP00000315351.4:p.Asn443Tyr
ENST00000400769.6:c.*77A>T	ENSP00000383580.2:n.*77A>T
ENST00000403782.5:c.925A>T	ENSP00000384723.1:p.Asn309Tyr
ENST00000436747.5:c.*2563A>T	ENSP00000400212.1:n.*2563A>T
ENST00000445308.1:c.723A>T
ENST00000468064.5:n.1217A>T
ENST00000470343.5:n.808A>T
ENST00000473126.1:n.526A>T
ENST00000486953.5:n.1151A>T
ENST00000610344.1:c.*171A>T	ENSP00000481906.1:n.*171A>T
NM_001287249.1:c.925A>T	NP_001274178.1:p.Asn309Tyr
NM_152783.4:c.1327A>T	NP_689996.4:p.Asn443Tyr
NR_109778.1:n.1249A>T
XM_011511734.1:c.1447A>T	XP_011510036.1:p.Asn483Tyr
XM_011511735.1:c.1405A>T	XP_011510037.1:p.Asn469Tyr
XM_011511736.1:c.1369A>T	XP_011510038.1:p.Asn457Tyr
XM_011511744.1:c.*59A>T	XP_011510046.1:n.*59A>T
XM_011511750.1:c.1239A>T	XP_011510052.1:p.Ser413=
XM_011511754.1:c.886A>T	XP_011510056.1:p.Asn296Tyr
XM_011511755.1:c.877A>T	XP_011510057.1:p.Asn293Tyr
XM_011511756.1:c.874A>T	XP_011510058.1:p.Asn292Tyr
XR_923004.1:n.1959A>T
XR_923007.1:n.1669A>T
XR_923011.1:n.1770A>T
NM_001352824.1:c.766A>T	NP_001339753.1:p.Asn256Tyr
XM_011511734.2:c.1447A>T	XP_011510036.1:p.Asn483Tyr
XM_011511735.2:c.1405A>T	XP_011510037.1:p.Asn469Tyr
XM_011511736.2:c.1369A>T	XP_011510038.1:p.Asn457Tyr
XM_011511744.2:c.*59A>T	XP_011510046.1:n.*59A>T
XM_011511750.3:c.1239A>T	XP_011510052.1:p.Ser413=
XM_011511756.2:c.874A>T	XP_011510058.1:p.Asn292Tyr
XM_024453102.1:c.1219A>T	XP_024308870.1:p.Asn407Tyr
XR_001738918.2:n.1701A>T
XR_001738919.2:n.1635A>T
XR_923004.3:n.1958A>T
XR_923007.3:n.1668A>T
XR_923011.3:n.1769A>T
NM_152783.5:c.1327A>T MANE Select	NP_689996.4:p.Asn443Tyr
NM_001287249.2:c.925A>T	NP_001274178.1:p.Asn309Tyr
NM_001352824.2:c.766A>T	NP_001339753.1:p.Asn256Tyr
NR_109778.2:n.1198A>T