Canonical Allele Identifier: CA363616228

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132154G>C (hg19) ; chr6:g.33164377G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164377G>C , CM000668.2:g.33164377G>C	GRCh38
NC_000006.11:g.33132154G>C , CM000668.1:g.33132154G>C	GRCh37
NC_000006.10:g.33240132G>C	NCBI36
NG_011589.1:g.33092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.766C>G
ENST00000341947.7:c.4960C>G MANE Select	ENSP00000339915.2:p.Pro1654Ala
ENST00000341947.6:c.4960C>G	ENSP00000339915.2:p.Pro1654Ala
ENST00000361917.5:c.4639C>G	ENSP00000355123.1:p.Pro1547Ala
ENST00000374708.8:c.4702C>G	ENSP00000363840.4:p.Pro1568Ala
ENST00000477772.1:n.750C>G
NM_080679.2:c.4639C>G	NP_542410.2:p.Pro1547Ala
NM_080680.2:c.4960C>G	NP_542411.2:p.Pro1654Ala
NM_080681.2:c.4702C>G	NP_542412.2:p.Pro1568Ala
XM_011514298.1:c.4114C>G	XP_011512600.1:p.Pro1372Ala
XM_011514299.1:c.4246C>G	XP_011512601.1:p.Pro1416Ala
XM_011514300.1:c.4066C>G	XP_011512602.1:p.Pro1356Ala
XM_011514301.1:c.4003C>G	XP_011512603.1:p.Pro1335Ala
XM_011514302.1:c.3847C>G	XP_011512604.1:p.Pro1283Ala
XM_011514299.2:c.4246C>G	XP_011512601.1:p.Pro1416Ala
XM_011514300.2:c.4066C>G	XP_011512602.1:p.Pro1356Ala
XM_011514302.2:c.3847C>G	XP_011512604.1:p.Pro1283Ala
XM_017010250.1:c.4960C>G	XP_016865739.1:p.Pro1654Ala
XM_017010251.2:c.3778C>G	XP_016865740.1:p.Pro1260Ala
NM_080680.3:c.4960C>G MANE Select	NP_542411.2:p.Pro1654Ala
NM_080681.3:c.4702C>G	NP_542412.2:p.Pro1568Ala
NM_080679.3:c.4639C>G	NP_542410.2:p.Pro1547Ala