Canonical Allele Identifier: CA348401517

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183763T>G (hg19) ; chr2:g.127426187T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426187T>G , CM000664.2:g.127426187T>G	GRCh38
NC_000002.11:g.128183763T>G , CM000664.1:g.128183763T>G	GRCh37
NC_000002.10:g.127900233T>G	NCBI36
NG_016323.1:g.12768T>G , LRG_599:g.12768T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.638T>G MANE Select	ENSP00000234071.4:p.Ile213Ser
ENST00000234071.7:c.638T>G	ENSP00000234071.3:p.Ile213Ser
ENST00000402125.2:c.121-2170T>G
ENST00000409048.1:c.740T>G	ENSP00000386679.1:p.Ile247Ser
ENST00000464089.1:n.224T>G
NM_000312.3:c.638T>G , LRG_599t1:c.638T>G	NP_000303.1:p.Ile213Ser
XM_005263715.3:c.821T>G	XP_005263772.1:p.Ile274Ser
XM_005263716.3:c.803T>G	XP_005263773.1:p.Ile268Ser
XM_005263717.3:c.701T>G	XP_005263774.1:p.Ile234Ser
XM_005263717.4:c.701T>G	XP_005263774.1:p.Ile234Ser
XM_017004505.1:c.881T>G	XP_016859994.1:p.Ile294Ser
XM_024453002.1:c.983T>G	XP_024308770.1:p.Ile328Ser
XM_024453003.1:c.923T>G	XP_024308771.1:p.Ile308Ser
XM_024453004.1:c.821T>G	XP_024308772.1:p.Ile274Ser
XM_024453005.1:c.803T>G	XP_024308773.1:p.Ile268Ser
XM_024453006.1:c.740T>G	XP_024308774.1:p.Ile247Ser
XR_923313.2:n.4398A>C
NM_000312.4:c.638T>G MANE Select	NP_000303.1:p.Ile213Ser
NM_001375602.1:c.821T>G	NP_001362531.1:p.Ile274Ser
NM_001375603.1:c.803T>G	NP_001362532.1:p.Ile268Ser
NM_001375604.1:c.701T>G	NP_001362533.1:p.Ile234Ser
NM_001375605.1:c.740T>G	NP_001362534.1:p.Ile247Ser
NM_001375606.1:c.806T>G	NP_001362535.1:p.Ile269Ser
NM_001375607.1:c.824T>G	NP_001362536.1:p.Ile275Ser
NM_001375608.1:c.581T>G	NP_001362537.1:p.Ile194Ser
NM_001375609.1:c.614T>G	NP_001362538.1:p.Ile205Ser
NM_001375610.1:c.632T>G	NP_001362539.1:p.Ile211Ser
NM_001375611.1:c.638T>G	NP_001362540.1:p.Ile213Ser
NM_001375613.1:c.638T>G	NP_001362542.1:p.Ile213Ser