Canonical Allele Identifier: CA432079114

Gene: D2HGDH

Linked Data

• dbSNP Id: rs111670322
• gnomAD v2: 2-242707213-G-C
• gnomAD v4: 2-241767798-G-C
• MyVariant Identifiers: chr2:g.242707213G>C (hg19) ; chr2:g.242707213_242707221delinsCGCCGGGCA (hg19) ; chr2:g.241767798_241767806delinsCGCCGGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767798G>C , CM000664.2:g.241767798G>C	GRCh38
NC_000002.11:g.242707213G>C , CM000664.1:g.242707213G>C	GRCh37
NC_000002.10:g.242355886G>C	NCBI36
NG_012012.1:g.38184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1395G>C MANE Select	ENSP00000315351.4:p.Thr465=
ENST00000321264.8:c.1395G>C	ENSP00000315351.4:p.Thr465=
ENST00000400769.6:c.*145G>C	ENSP00000383580.2:n.*145G>C
ENST00000403782.5:c.993G>C	ENSP00000384723.1:p.Thr331=
ENST00000436747.5:c.*2631G>C	ENSP00000400212.1:n.*2631G>C
ENST00000445308.1:c.791G>C
ENST00000468064.5:n.1285G>C
ENST00000470343.5:n.876G>C
ENST00000473126.1:n.594G>C
ENST00000486953.5:n.1219G>C
ENST00000610344.1:c.*239G>C	ENSP00000481906.1:n.*239G>C
NM_001287249.1:c.993G>C	NP_001274178.1:p.Thr331=
NM_152783.4:c.1395G>C	NP_689996.4:p.Thr465=
NR_109778.1:n.1317G>C
XM_011511734.1:c.1515G>C	XP_011510036.1:p.Thr505=
XM_011511735.1:c.1473G>C	XP_011510037.1:p.Thr491=
XM_011511736.1:c.1437G>C	XP_011510038.1:p.Thr479=
XM_011511750.1:c.*62G>C	XP_011510052.1:n.*62G>C
XM_011511754.1:c.954G>C	XP_011510056.1:p.Thr318=
XM_011511755.1:c.945G>C	XP_011510057.1:p.Thr315=
XM_011511756.1:c.942G>C	XP_011510058.1:p.Thr314=
XR_923004.1:n.2027G>C
XR_923007.1:n.1737G>C
XR_923011.1:n.1838G>C
NM_001352824.1:c.834G>C	NP_001339753.1:p.Thr278=
XM_011511734.2:c.1515G>C	XP_011510036.1:p.Thr505=
XM_011511735.2:c.1473G>C	XP_011510037.1:p.Thr491=
XM_011511736.2:c.1437G>C	XP_011510038.1:p.Thr479=
XM_011511750.3:c.*62G>C	XP_011510052.1:n.*62G>C
XM_011511756.2:c.942G>C	XP_011510058.1:p.Thr314=
XM_024453102.1:c.1287G>C	XP_024308870.1:p.Thr429=
XR_001738918.2:n.1769G>C
XR_001738919.2:n.1703G>C
XR_923004.3:n.2026G>C
XR_923007.3:n.1736G>C
XR_923011.3:n.1837G>C
NM_152783.5:c.1395G>C MANE Select	NP_689996.4:p.Thr465=
NM_001287249.2:c.993G>C	NP_001274178.1:p.Thr331=
NM_001352824.2:c.834G>C	NP_001339753.1:p.Thr278=
NR_109778.2:n.1266G>C