Canonical Allele Identifier: CA348664944

Gene: GPD2

Linked Data

• MyVariant Identifiers: chr2:g.157435664G>C (hg19) ; chr2:g.156579152G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.156579152G>C , CM000664.2:g.156579152G>C	GRCh38
NC_000002.11:g.157435664G>C , CM000664.1:g.157435664G>C	GRCh37
NC_000002.10:g.157143910G>C	NCBI36
NG_016606.1:g.148700G>C
NG_016606.2:g.148700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438166.7:c.1947G>C MANE Select	ENSP00000409708.2:p.Gln649His
ENST00000310454.10:c.1947G>C	ENSP00000308610.5:p.Gln649His
ENST00000409125.8:c.1569G>C	ENSP00000386484.5:p.Gln523His
ENST00000409674.5:c.1947G>C	ENSP00000386425.1:p.Gln649His
ENST00000409861.5:c.1947G>C	ENSP00000386626.1:p.Gln649His
ENST00000438166.6:c.1947G>C	ENSP00000409708.2:p.Gln649His
ENST00000464846.5:n.385G>C
ENST00000492005.1:n.70G>C
ENST00000540309.5:c.*61G>C	ENSP00000440892.1:n.*61G>C
NM_000408.4:c.1947G>C	NP_000399.3:p.Gln649His
NM_001083112.2:c.1947G>C	NP_001076581.2:p.Gln649His
XM_005246469.1:c.1947G>C	XP_005246526.1:p.Gln649His
XM_005246470.3:c.1845G>C	XP_005246527.1:p.Gln615His
XM_011510977.1:c.1947G>C	XP_011509279.1:p.Gln649His
XM_011510978.1:c.1845G>C	XP_011509280.1:p.Gln615His
XM_011510979.1:c.1569G>C	XP_011509281.1:p.Gln523His
XM_011510980.1:c.1266G>C	XP_011509282.1:p.Gln422His
XM_005246469.2:c.1947G>C	XP_005246526.1:p.Gln649His
XM_011510977.2:c.1947G>C	XP_011509279.1:p.Gln649His
XM_011510978.2:c.1845G>C	XP_011509280.1:p.Gln615His
XM_017003830.1:c.1947G>C	XP_016859319.1:p.Gln649His
XM_024452798.1:c.1947G>C	XP_024308566.1:p.Gln649His
NM_000408.5:c.1947G>C MANE Select	NP_000399.3:p.Gln649His
NM_001083112.3:c.1947G>C	NP_001076581.2:p.Gln649His