Canonical Allele Identifier: CA348401324

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183724A>G (hg19) ; chr2:g.127426148A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426148A>G , CM000664.2:g.127426148A>G	GRCh38
NC_000002.11:g.128183724A>G , CM000664.1:g.128183724A>G	GRCh37
NC_000002.10:g.127900194A>G	NCBI36
NG_016323.1:g.12729A>G , LRG_599:g.12729A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.599A>G MANE Select	ENSP00000234071.4:p.Asp200Gly
ENST00000234071.7:c.599A>G	ENSP00000234071.3:p.Asp200Gly
ENST00000402125.2:c.121-2209A>G
ENST00000409048.1:c.701A>G	ENSP00000386679.1:p.Asp234Gly
ENST00000464089.1:n.185A>G
NM_000312.3:c.599A>G , LRG_599t1:c.599A>G	NP_000303.1:p.Asp200Gly
XM_005263715.3:c.782A>G	XP_005263772.1:p.Asp261Gly
XM_005263716.3:c.764A>G	XP_005263773.1:p.Asp255Gly
XM_005263717.3:c.662A>G	XP_005263774.1:p.Asp221Gly
XM_005263717.4:c.662A>G	XP_005263774.1:p.Asp221Gly
XM_017004505.1:c.842A>G	XP_016859994.1:p.Asp281Gly
XM_024453002.1:c.944A>G	XP_024308770.1:p.Asp315Gly
XM_024453003.1:c.884A>G	XP_024308771.1:p.Asp295Gly
XM_024453004.1:c.782A>G	XP_024308772.1:p.Asp261Gly
XM_024453005.1:c.764A>G	XP_024308773.1:p.Asp255Gly
XM_024453006.1:c.701A>G	XP_024308774.1:p.Asp234Gly
XR_923313.2:n.4437T>C
NM_000312.4:c.599A>G MANE Select	NP_000303.1:p.Asp200Gly
NM_001375602.1:c.782A>G	NP_001362531.1:p.Asp261Gly
NM_001375603.1:c.764A>G	NP_001362532.1:p.Asp255Gly
NM_001375604.1:c.662A>G	NP_001362533.1:p.Asp221Gly
NM_001375605.1:c.701A>G	NP_001362534.1:p.Asp234Gly
NM_001375606.1:c.767A>G	NP_001362535.1:p.Asp256Gly
NM_001375607.1:c.785A>G	NP_001362536.1:p.Asp262Gly
NM_001375608.1:c.542A>G	NP_001362537.1:p.Asp181Gly
NM_001375609.1:c.575A>G	NP_001362538.1:p.Asp192Gly
NM_001375610.1:c.593A>G	NP_001362539.1:p.Asp198Gly
NM_001375611.1:c.599A>G	NP_001362540.1:p.Asp200Gly
NM_001375613.1:c.599A>G	NP_001362542.1:p.Asp200Gly