Canonical Allele Identifier: CA363627989

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137243T>G (hg19) ; chr6:g.33169466T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169466T>G , CM000668.2:g.33169466T>G	GRCh38
NC_000006.11:g.33137243T>G , CM000668.1:g.33137243T>G	GRCh37
NC_000006.10:g.33245221T>G	NCBI36
NG_011589.1:g.28003A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3715A>C MANE Select	ENSP00000339915.2:p.Lys1239Gln
ENST00000341947.6:c.3715A>C	ENSP00000339915.2:p.Lys1239Gln
ENST00000361917.5:c.3394A>C	ENSP00000355123.1:p.Lys1132Gln
ENST00000374708.8:c.3457A>C	ENSP00000363840.4:p.Lys1153Gln
ENST00000477772.1:n.273-3650A>C
NM_080679.2:c.3394A>C	NP_542410.2:p.Lys1132Gln
NM_080680.2:c.3715A>C	NP_542411.2:p.Lys1239Gln
NM_080681.2:c.3457A>C	NP_542412.2:p.Lys1153Gln
XM_011514298.1:c.2869A>C	XP_011512600.1:p.Lys957Gln
XM_011514299.1:c.3001A>C	XP_011512601.1:p.Lys1001Gln
XM_011514300.1:c.2821A>C	XP_011512602.1:p.Lys941Gln
XM_011514301.1:c.2758A>C	XP_011512603.1:p.Lys920Gln
XM_011514302.1:c.2602A>C	XP_011512604.1:p.Lys868Gln
XM_011514299.2:c.3001A>C	XP_011512601.1:p.Lys1001Gln
XM_011514300.2:c.2821A>C	XP_011512602.1:p.Lys941Gln
XM_011514302.2:c.2602A>C	XP_011512604.1:p.Lys868Gln
XM_017010250.1:c.3715A>C	XP_016865739.1:p.Lys1239Gln
XM_017010251.2:c.2533A>C	XP_016865740.1:p.Lys845Gln
NM_080680.3:c.3715A>C MANE Select	NP_542411.2:p.Lys1239Gln
NM_080681.3:c.3457A>C	NP_542412.2:p.Lys1153Gln
NM_080679.3:c.3394A>C	NP_542410.2:p.Lys1132Gln