Canonical Allele Identifier: CA363616642

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2129801
• ClinVar RCV Id: RCV003044222
• MyVariant Identifiers: chr6:g.33132241C>G (hg19) ; chr6:g.33164464C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164464C>G , CM000668.2:g.33164464C>G	GRCh38
NC_000006.11:g.33132241C>G , CM000668.1:g.33132241C>G	GRCh37
NC_000006.10:g.33240219C>G	NCBI36
NG_011589.1:g.33005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.679G>C
ENST00000341947.7:c.4873G>C MANE Select	ENSP00000339915.2:p.Val1625Leu
ENST00000341947.6:c.4873G>C	ENSP00000339915.2:p.Val1625Leu
ENST00000361917.5:c.4552G>C	ENSP00000355123.1:p.Val1518Leu
ENST00000374708.8:c.4615G>C	ENSP00000363840.4:p.Val1539Leu
ENST00000477772.1:n.663G>C
NM_080679.2:c.4552G>C	NP_542410.2:p.Val1518Leu
NM_080680.2:c.4873G>C	NP_542411.2:p.Val1625Leu
NM_080681.2:c.4615G>C	NP_542412.2:p.Val1539Leu
XM_011514298.1:c.4027G>C	XP_011512600.1:p.Val1343Leu
XM_011514299.1:c.4159G>C	XP_011512601.1:p.Val1387Leu
XM_011514300.1:c.3979G>C	XP_011512602.1:p.Val1327Leu
XM_011514301.1:c.3916G>C	XP_011512603.1:p.Val1306Leu
XM_011514302.1:c.3760G>C	XP_011512604.1:p.Val1254Leu
XM_011514299.2:c.4159G>C	XP_011512601.1:p.Val1387Leu
XM_011514300.2:c.3979G>C	XP_011512602.1:p.Val1327Leu
XM_011514302.2:c.3760G>C	XP_011512604.1:p.Val1254Leu
XM_017010250.1:c.4873G>C	XP_016865739.1:p.Val1625Leu
XM_017010251.2:c.3691G>C	XP_016865740.1:p.Val1231Leu
NM_080680.3:c.4873G>C MANE Select	NP_542411.2:p.Val1625Leu
NM_080681.3:c.4615G>C	NP_542412.2:p.Val1539Leu
NM_080679.3:c.4552G>C	NP_542410.2:p.Val1518Leu