Canonical Allele Identifier: CA363627902

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137234A>C (hg19) ; chr6:g.33169457A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169457A>C , CM000668.2:g.33169457A>C	GRCh38
NC_000006.11:g.33137234A>C , CM000668.1:g.33137234A>C	GRCh37
NC_000006.10:g.33245212A>C	NCBI36
NG_011589.1:g.28012T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3724T>G MANE Select	ENSP00000339915.2:p.Ser1242Ala
ENST00000341947.6:c.3724T>G	ENSP00000339915.2:p.Ser1242Ala
ENST00000361917.5:c.3403T>G	ENSP00000355123.1:p.Ser1135Ala
ENST00000374708.8:c.3466T>G	ENSP00000363840.4:p.Ser1156Ala
ENST00000477772.1:n.273-3641T>G
NM_080679.2:c.3403T>G	NP_542410.2:p.Ser1135Ala
NM_080680.2:c.3724T>G	NP_542411.2:p.Ser1242Ala
NM_080681.2:c.3466T>G	NP_542412.2:p.Ser1156Ala
XM_011514298.1:c.2878T>G	XP_011512600.1:p.Ser960Ala
XM_011514299.1:c.3010T>G	XP_011512601.1:p.Ser1004Ala
XM_011514300.1:c.2830T>G	XP_011512602.1:p.Ser944Ala
XM_011514301.1:c.2767T>G	XP_011512603.1:p.Ser923Ala
XM_011514302.1:c.2611T>G	XP_011512604.1:p.Ser871Ala
XM_011514299.2:c.3010T>G	XP_011512601.1:p.Ser1004Ala
XM_011514300.2:c.2830T>G	XP_011512602.1:p.Ser944Ala
XM_011514302.2:c.2611T>G	XP_011512604.1:p.Ser871Ala
XM_017010250.1:c.3724T>G	XP_016865739.1:p.Ser1242Ala
XM_017010251.2:c.2542T>G	XP_016865740.1:p.Ser848Ala
NM_080680.3:c.3724T>G MANE Select	NP_542411.2:p.Ser1242Ala
NM_080681.3:c.3466T>G	NP_542412.2:p.Ser1156Ala
NM_080679.3:c.3403T>G	NP_542410.2:p.Ser1135Ala