Canonical Allele Identifier: CA363617462

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132655C>G (hg19) ; chr6:g.33164878C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164878C>G , CM000668.2:g.33164878C>G	GRCh38
NC_000006.11:g.33132655C>G , CM000668.1:g.33132655C>G	GRCh37
NC_000006.10:g.33240633C>G	NCBI36
NG_011589.1:g.32591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.643G>C
ENST00000341947.7:c.4837G>C MANE Select	ENSP00000339915.2:p.Val1613Leu
ENST00000341947.6:c.4837G>C	ENSP00000339915.2:p.Val1613Leu
ENST00000361917.5:c.4516G>C	ENSP00000355123.1:p.Val1506Leu
ENST00000374708.8:c.4579G>C	ENSP00000363840.4:p.Val1527Leu
ENST00000477772.1:n.627G>C
NM_080679.2:c.4516G>C	NP_542410.2:p.Val1506Leu
NM_080680.2:c.4837G>C	NP_542411.2:p.Val1613Leu
NM_080681.2:c.4579G>C	NP_542412.2:p.Val1527Leu
XM_011514298.1:c.3991G>C	XP_011512600.1:p.Val1331Leu
XM_011514299.1:c.4123G>C	XP_011512601.1:p.Val1375Leu
XM_011514300.1:c.3943G>C	XP_011512602.1:p.Val1315Leu
XM_011514301.1:c.3880G>C	XP_011512603.1:p.Val1294Leu
XM_011514302.1:c.3724G>C	XP_011512604.1:p.Val1242Leu
XM_011514299.2:c.4123G>C	XP_011512601.1:p.Val1375Leu
XM_011514300.2:c.3943G>C	XP_011512602.1:p.Val1315Leu
XM_011514302.2:c.3724G>C	XP_011512604.1:p.Val1242Leu
XM_017010250.1:c.4837G>C	XP_016865739.1:p.Val1613Leu
XM_017010251.2:c.3655G>C	XP_016865740.1:p.Val1219Leu
NM_080680.3:c.4837G>C MANE Select	NP_542411.2:p.Val1613Leu
NM_080681.3:c.4579G>C	NP_542412.2:p.Val1527Leu
NM_080679.3:c.4516G>C	NP_542410.2:p.Val1506Leu