Canonical Allele Identifier: CA1917118

Gene: GPD2

Linked Data

• dbSNP Id: rs777949639
• ExAC: 2:157435521 T / C
• gnomAD v2: 2-157435521-T-C
• gnomAD v3: 2-156579009-T-C
• gnomAD v4: 2-156579009-T-C
• MyVariant Identifiers: chr2:g.157435521T>C (hg19) ; chr2:g.156579009T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.156579009T>C , CM000664.2:g.156579009T>C	GRCh38
NC_000002.11:g.157435521T>C , CM000664.1:g.157435521T>C	GRCh37
NC_000002.10:g.157143767T>C	NCBI36
NG_016606.1:g.148557T>C
NG_016606.2:g.148557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438166.7:c.1880+8T>C MANE Select	ENSP00000409708.2:n.1880+8T>C
ENST00000310454.10:c.1880+8T>C	ENSP00000308610.5:n.1880+8T>C
ENST00000409125.8:c.1502+8T>C	ENSP00000386484.5:n.1502+8T>C
ENST00000409674.5:c.1880+8T>C	ENSP00000386425.1:n.1880+8T>C
ENST00000409861.5:c.1880+8T>C	ENSP00000386626.1:n.1880+8T>C
ENST00000438166.6:c.1880+8T>C	ENSP00000409708.2:n.1880+8T>C
ENST00000464846.5:n.242T>C
ENST00000540309.5:c.1135-77T>C	ENSP00000440892.1:n.1135-77T>C
NM_000408.4:c.1880+8T>C	NP_000399.3:n.1880+8T>C
NM_001083112.2:c.1880+8T>C	NP_001076581.2:n.1880+8T>C
XM_005246469.1:c.1880+8T>C	XP_005246526.1:n.1880+8T>C
XM_005246470.3:c.1778+8T>C	XP_005246527.1:n.1778+8T>C
XM_011510977.1:c.1880+8T>C	XP_011509279.1:n.1880+8T>C
XM_011510978.1:c.1778+8T>C	XP_011509280.1:n.1778+8T>C
XM_011510979.1:c.1502+8T>C	XP_011509281.1:n.1502+8T>C
XM_011510980.1:c.1199+8T>C	XP_011509282.1:n.1199+8T>C
XM_005246469.2:c.1880+8T>C	XP_005246526.1:n.1880+8T>C
XM_011510977.2:c.1880+8T>C	XP_011509279.1:n.1880+8T>C
XM_011510978.2:c.1778+8T>C	XP_011509280.1:n.1778+8T>C
XM_017003830.1:c.1880+8T>C	XP_016859319.1:n.1880+8T>C
XM_024452798.1:c.1880+8T>C	XP_024308566.1:n.1880+8T>C
NM_000408.5:c.1880+8T>C MANE Select	NP_000399.3:n.1880+8T>C
NM_001083112.3:c.1880+8T>C	NP_001076581.2:n.1880+8T>C