Canonical Allele Identifier: CA348401559

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183772A>C (hg19) ; chr2:g.127426196A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426196A>C , CM000664.2:g.127426196A>C	GRCh38
NC_000002.11:g.128183772A>C , CM000664.1:g.128183772A>C	GRCh37
NC_000002.10:g.127900242A>C	NCBI36
NG_016323.1:g.12777A>C , LRG_599:g.12777A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.647A>C MANE Select	ENSP00000234071.4:p.Lys216Thr
ENST00000234071.7:c.647A>C	ENSP00000234071.3:p.Lys216Thr
ENST00000402125.2:c.121-2161A>C
ENST00000409048.1:c.749A>C	ENSP00000386679.1:p.Lys250Thr
ENST00000464089.1:n.233A>C
NM_000312.3:c.647A>C , LRG_599t1:c.647A>C	NP_000303.1:p.Lys216Thr
XM_005263715.3:c.830A>C	XP_005263772.1:p.Lys277Thr
XM_005263716.3:c.812A>C	XP_005263773.1:p.Lys271Thr
XM_005263717.3:c.710A>C	XP_005263774.1:p.Lys237Thr
XM_005263717.4:c.710A>C	XP_005263774.1:p.Lys237Thr
XM_017004505.1:c.890A>C	XP_016859994.1:p.Lys297Thr
XM_024453002.1:c.992A>C	XP_024308770.1:p.Lys331Thr
XM_024453003.1:c.932A>C	XP_024308771.1:p.Lys311Thr
XM_024453004.1:c.830A>C	XP_024308772.1:p.Lys277Thr
XM_024453005.1:c.812A>C	XP_024308773.1:p.Lys271Thr
XM_024453006.1:c.749A>C	XP_024308774.1:p.Lys250Thr
XR_923313.2:n.4389T>G
NM_000312.4:c.647A>C MANE Select	NP_000303.1:p.Lys216Thr
NM_001375602.1:c.830A>C	NP_001362531.1:p.Lys277Thr
NM_001375603.1:c.812A>C	NP_001362532.1:p.Lys271Thr
NM_001375604.1:c.710A>C	NP_001362533.1:p.Lys237Thr
NM_001375605.1:c.749A>C	NP_001362534.1:p.Lys250Thr
NM_001375606.1:c.815A>C	NP_001362535.1:p.Lys272Thr
NM_001375607.1:c.833A>C	NP_001362536.1:p.Lys278Thr
NM_001375608.1:c.590A>C	NP_001362537.1:p.Lys197Thr
NM_001375609.1:c.623A>C	NP_001362538.1:p.Lys208Thr
NM_001375610.1:c.641A>C	NP_001362539.1:p.Lys214Thr
NM_001375611.1:c.647A>C	NP_001362540.1:p.Lys216Thr
NM_001375613.1:c.647A>C	NP_001362542.1:p.Lys216Thr