Canonical Allele Identifier: CA348404508

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185998C>G (hg19) ; chr2:g.127428422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428422C>G , CM000664.2:g.127428422C>G	GRCh38
NC_000002.11:g.128185998C>G , CM000664.1:g.128185998C>G	GRCh37
NC_000002.10:g.127902468C>G	NCBI36
NG_016323.1:g.15003C>G , LRG_599:g.15003C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.862C>G MANE Select	ENSP00000234071.4:p.His288Asp
ENST00000234071.7:c.862C>G	ENSP00000234071.3:p.His288Asp
ENST00000402125.2:c.186C>G
ENST00000409048.1:c.964C>G	ENSP00000386679.1:p.His322Asp
NM_000312.3:c.862C>G , LRG_599t1:c.862C>G	NP_000303.1:p.His288Asp
XM_005263715.3:c.1045C>G	XP_005263772.1:p.His349Asp
XM_005263716.3:c.1027C>G	XP_005263773.1:p.His343Asp
XM_005263717.3:c.925C>G	XP_005263774.1:p.His309Asp
XR_923313.1:n.1332-158G>C
XM_005263717.4:c.925C>G	XP_005263774.1:p.His309Asp
XM_017004505.1:c.1105C>G	XP_016859994.1:p.His369Asp
XM_024453002.1:c.1207C>G	XP_024308770.1:p.His403Asp
XM_024453003.1:c.1147C>G	XP_024308771.1:p.His383Asp
XM_024453004.1:c.1045C>G	XP_024308772.1:p.His349Asp
XM_024453005.1:c.1027C>G	XP_024308773.1:p.His343Asp
XM_024453006.1:c.964C>G	XP_024308774.1:p.His322Asp
XR_001739705.1:n.3607-158G>C
XR_923313.2:n.4043-158G>C
NM_000312.4:c.862C>G MANE Select	NP_000303.1:p.His288Asp
NM_001375602.1:c.1045C>G	NP_001362531.1:p.His349Asp
NM_001375603.1:c.1027C>G	NP_001362532.1:p.His343Asp
NM_001375604.1:c.925C>G	NP_001362533.1:p.His309Asp
NM_001375605.1:c.964C>G	NP_001362534.1:p.His322Asp
NM_001375606.1:c.1030C>G	NP_001362535.1:p.His344Asp
NM_001375607.1:c.1048C>G	NP_001362536.1:p.His350Asp
NM_001375608.1:c.805C>G	NP_001362537.1:p.His269Asp
NM_001375609.1:c.838C>G	NP_001362538.1:p.His280Asp
NM_001375610.1:c.856C>G	NP_001362539.1:p.His286Asp
NM_001375611.1:c.862C>G	NP_001362540.1:p.His288Asp
NM_001375613.1:c.862C>G	NP_001362542.1:p.His288Asp