Canonical Allele Identifier: CA449866972

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1996319
• ClinVar RCV Id: RCV002801970
• MyVariant Identifiers: chr6:g.33132143T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164366T>C , CM000668.2:g.33164366T>C	GRCh38
NC_000006.11:g.33132143T>C , CM000668.1:g.33132143T>C	GRCh37
NC_000006.10:g.33240121T>C	NCBI36
NG_011589.1:g.33103A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.777A>G
ENST00000341947.7:c.4971A>G MANE Select	ENSP00000339915.2:p.Gly1657=
ENST00000341947.6:c.4971A>G	ENSP00000339915.2:p.Gly1657=
ENST00000361917.5:c.4650A>G	ENSP00000355123.1:p.Gly1550=
ENST00000374708.8:c.4713A>G	ENSP00000363840.4:p.Gly1571=
ENST00000477772.1:n.761A>G
NM_080679.2:c.4650A>G	NP_542410.2:p.Gly1550=
NM_080680.2:c.4971A>G	NP_542411.2:p.Gly1657=
NM_080681.2:c.4713A>G	NP_542412.2:p.Gly1571=
XM_011514298.1:c.4125A>G	XP_011512600.1:p.Gly1375=
XM_011514299.1:c.4257A>G	XP_011512601.1:p.Gly1419=
XM_011514300.1:c.4077A>G	XP_011512602.1:p.Gly1359=
XM_011514301.1:c.4014A>G	XP_011512603.1:p.Gly1338=
XM_011514302.1:c.3858A>G	XP_011512604.1:p.Gly1286=
XM_011514299.2:c.4257A>G	XP_011512601.1:p.Gly1419=
XM_011514300.2:c.4077A>G	XP_011512602.1:p.Gly1359=
XM_011514302.2:c.3858A>G	XP_011512604.1:p.Gly1286=
XM_017010250.1:c.4971A>G	XP_016865739.1:p.Gly1657=
XM_017010251.2:c.3789A>G	XP_016865740.1:p.Gly1263=
NM_080680.3:c.4971A>G MANE Select	NP_542411.2:p.Gly1657=
NM_080681.3:c.4713A>G	NP_542412.2:p.Gly1571=
NM_080679.3:c.4650A>G	NP_542410.2:p.Gly1550=