Canonical Allele Identifier: CA360801757

Gene: P4HA2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132217767A>G , CM000667.2:g.132217767A>G	GRCh38
NC_000005.9:g.131553460A>G , CM000667.1:g.131553460A>G	GRCh37
NC_000005.8:g.131581359A>G	NCBI36
NG_052887.1:g.15097T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001017974.2:c.164T>C MANE Select	NP_001017974.1:p.Leu55Pro
ENST00000360568.8:c.164T>C MANE Select	ENSP00000353772.3:p.Leu55Pro
NM_001365677.2:c.164T>C MANE Plus Clinical	NP_001352606.1:p.Leu55Pro
ENST00000379104.7:c.164T>C MANE Plus Clinical	ENSP00000368398.2:p.Leu55Pro
NM_001017973.1:c.164T>C	NP_001017973.1:p.Leu55Pro
NM_001017974.1:c.164T>C	NP_001017974.1:p.Leu55Pro
NM_001142598.1:c.164T>C	NP_001136070.1:p.Leu55Pro
NM_001142598.2:c.164T>C	NP_001136070.1:p.Leu55Pro
NM_001142599.1:c.164T>C	NP_001136071.1:p.Leu55Pro
NM_001142599.2:c.164T>C	NP_001136071.1:p.Leu55Pro
NM_001365677.1:c.164T>C	NP_001352606.1:p.Leu55Pro
NM_001365678.1:c.164T>C	NP_001352607.1:p.Leu55Pro
NM_001365678.2:c.164T>C	NP_001352607.1:p.Leu55Pro
NM_001365679.1:c.164T>C	NP_001352608.1:p.Leu55Pro
NM_001365679.2:c.164T>C	NP_001352608.1:p.Leu55Pro
NM_001365680.1:c.164T>C	NP_001352609.1:p.Leu55Pro
NM_001365680.2:c.164T>C	NP_001352609.1:p.Leu55Pro
NM_001365681.1:c.164T>C	NP_001352610.1:p.Leu55Pro
NM_001365681.2:c.164T>C	NP_001352610.1:p.Leu55Pro
NM_004199.2:c.164T>C	NP_004190.1:p.Leu55Pro
NM_004199.3:c.164T>C	NP_004190.1:p.Leu55Pro
ENST00000166534.8:c.164T>C	ENSP00000166534.4:p.Leu55Pro
ENST00000360568.7:c.164T>C	ENSP00000353772.3:p.Leu55Pro
ENST00000379086.5:c.164T>C	ENSP00000368379.1:p.Leu55Pro
ENST00000379100.6:c.164T>C	ENSP00000368394.2:p.Leu55Pro
ENST00000379100.7:c.164T>C	ENSP00000368394.2:p.Leu55Pro
ENST00000379104.6:c.164T>C	ENSP00000368398.2:p.Leu55Pro
ENST00000395164.5:c.164T>C	ENSP00000378593.1:p.Leu55Pro
ENST00000401867.5:c.164T>C	ENSP00000384999.1:p.Leu55Pro
ENST00000416053.5:c.164T>C	ENSP00000394953.1:p.Leu55Pro
ENST00000417528.5:c.164T>C	ENSP00000389523.1:p.Leu55Pro
ENST00000418055.5:c.164T>C	ENSP00000403883.1:p.Leu55Pro
ENST00000428369.5:c.164T>C	ENSP00000396495.1:p.Leu55Pro
ENST00000428369.6:c.164T>C	ENSP00000396495.1:p.Leu55Pro
ENST00000431054.5:c.260T>C	ENSP00000391257.1:p.Leu87Pro
ENST00000439698.5:c.164T>C	ENSP00000405406.1:p.Leu55Pro
ENST00000453286.5:c.164T>C	ENSP00000413542.1:p.Leu55Pro
ENST00000478055.1:n.359T>C
XM_005272116.3:c.164T>C	XP_005272173.1:p.Leu55Pro
XM_005272117.3:c.164T>C	XP_005272174.1:p.Leu55Pro
XM_005272117.4:c.164T>C	XP_005272174.1:p.Leu55Pro
XM_005272118.3:c.164T>C	XP_005272175.1:p.Leu55Pro
XM_005272118.4:c.164T>C	XP_005272175.1:p.Leu55Pro
XM_005272119.3:c.164T>C	XP_005272176.1:p.Leu55Pro
XM_005272119.4:c.164T>C	XP_005272176.1:p.Leu55Pro
XM_005272120.3:c.164T>C	XP_005272177.1:p.Leu55Pro
XM_005272120.4:c.164T>C	XP_005272177.1:p.Leu55Pro
XM_006714728.2:c.164T>C	XP_006714791.1:p.Leu55Pro
XM_006714728.3:c.164T>C	XP_006714791.1:p.Leu55Pro
XM_006714729.2:c.164T>C	XP_006714792.1:p.Leu55Pro
XM_006714730.2:c.164T>C	XP_006714793.1:p.Leu55Pro
XM_011543705.1:c.164T>C	XP_011542007.1:p.Leu55Pro
XM_024446255.1:c.164T>C	XP_024302023.1:p.Leu55Pro
XM_024446256.1:c.164T>C	XP_024302024.1:p.Leu55Pro