Canonical Allele Identifier: CA363616647

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132242G>C (hg19) ; chr6:g.33164465G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164465G>C , CM000668.2:g.33164465G>C	GRCh38
NC_000006.11:g.33132242G>C , CM000668.1:g.33132242G>C	GRCh37
NC_000006.10:g.33240220G>C	NCBI36
NG_011589.1:g.33004C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.678C>G
ENST00000341947.7:c.4872C>G MANE Select	ENSP00000339915.2:p.Tyr1624Ter
ENST00000341947.6:c.4872C>G	ENSP00000339915.2:p.Tyr1624Ter
ENST00000361917.5:c.4551C>G	ENSP00000355123.1:p.Tyr1517Ter
ENST00000374708.8:c.4614C>G	ENSP00000363840.4:p.Tyr1538Ter
ENST00000477772.1:n.662C>G
NM_080679.2:c.4551C>G	NP_542410.2:p.Tyr1517Ter
NM_080680.2:c.4872C>G	NP_542411.2:p.Tyr1624Ter
NM_080681.2:c.4614C>G	NP_542412.2:p.Tyr1538Ter
XM_011514298.1:c.4026C>G	XP_011512600.1:p.Tyr1342Ter
XM_011514299.1:c.4158C>G	XP_011512601.1:p.Tyr1386Ter
XM_011514300.1:c.3978C>G	XP_011512602.1:p.Tyr1326Ter
XM_011514301.1:c.3915C>G	XP_011512603.1:p.Tyr1305Ter
XM_011514302.1:c.3759C>G	XP_011512604.1:p.Tyr1253Ter
XM_011514299.2:c.4158C>G	XP_011512601.1:p.Tyr1386Ter
XM_011514300.2:c.3978C>G	XP_011512602.1:p.Tyr1326Ter
XM_011514302.2:c.3759C>G	XP_011512604.1:p.Tyr1253Ter
XM_017010250.1:c.4872C>G	XP_016865739.1:p.Tyr1624Ter
XM_017010251.2:c.3690C>G	XP_016865740.1:p.Tyr1230Ter
NM_080680.3:c.4872C>G MANE Select	NP_542411.2:p.Tyr1624Ter
NM_080681.3:c.4614C>G	NP_542412.2:p.Tyr1538Ter
NM_080679.3:c.4551C>G	NP_542410.2:p.Tyr1517Ter