Canonical Allele Identifier: CA363627959

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137241T>G (hg19) ; chr6:g.33169464T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169464T>G , CM000668.2:g.33169464T>G	GRCh38
NC_000006.11:g.33137241T>G , CM000668.1:g.33137241T>G	GRCh37
NC_000006.10:g.33245219T>G	NCBI36
NG_011589.1:g.28005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3717A>C MANE Select	ENSP00000339915.2:p.Lys1239Asn
ENST00000341947.6:c.3717A>C	ENSP00000339915.2:p.Lys1239Asn
ENST00000361917.5:c.3396A>C	ENSP00000355123.1:p.Lys1132Asn
ENST00000374708.8:c.3459A>C	ENSP00000363840.4:p.Lys1153Asn
ENST00000477772.1:n.273-3648A>C
NM_080679.2:c.3396A>C	NP_542410.2:p.Lys1132Asn
NM_080680.2:c.3717A>C	NP_542411.2:p.Lys1239Asn
NM_080681.2:c.3459A>C	NP_542412.2:p.Lys1153Asn
XM_011514298.1:c.2871A>C	XP_011512600.1:p.Lys957Asn
XM_011514299.1:c.3003A>C	XP_011512601.1:p.Lys1001Asn
XM_011514300.1:c.2823A>C	XP_011512602.1:p.Lys941Asn
XM_011514301.1:c.2760A>C	XP_011512603.1:p.Lys920Asn
XM_011514302.1:c.2604A>C	XP_011512604.1:p.Lys868Asn
XM_011514299.2:c.3003A>C	XP_011512601.1:p.Lys1001Asn
XM_011514300.2:c.2823A>C	XP_011512602.1:p.Lys941Asn
XM_011514302.2:c.2604A>C	XP_011512604.1:p.Lys868Asn
XM_017010250.1:c.3717A>C	XP_016865739.1:p.Lys1239Asn
XM_017010251.2:c.2535A>C	XP_016865740.1:p.Lys845Asn
NM_080680.3:c.3717A>C MANE Select	NP_542411.2:p.Lys1239Asn
NM_080681.3:c.3459A>C	NP_542412.2:p.Lys1153Asn
NM_080679.3:c.3396A>C	NP_542410.2:p.Lys1132Asn