Canonical Allele Identifier: CA363627905

Gene: COL11A2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3724T>C MANE Select	ENSP00000339915.2:p.Ser1242Pro
ENST00000341947.6:c.3724T>C	ENSP00000339915.2:p.Ser1242Pro
ENST00000361917.5:c.3403T>C	ENSP00000355123.1:p.Ser1135Pro
ENST00000374708.8:c.3466T>C	ENSP00000363840.4:p.Ser1156Pro
ENST00000477772.1:n.273-3641T>C
NM_080679.2:c.3403T>C	NP_542410.2:p.Ser1135Pro
NM_080680.2:c.3724T>C	NP_542411.2:p.Ser1242Pro
NM_080681.2:c.3466T>C	NP_542412.2:p.Ser1156Pro
XM_011514298.1:c.2878T>C	XP_011512600.1:p.Ser960Pro
XM_011514299.1:c.3010T>C	XP_011512601.1:p.Ser1004Pro
XM_011514300.1:c.2830T>C	XP_011512602.1:p.Ser944Pro
XM_011514301.1:c.2767T>C	XP_011512603.1:p.Ser923Pro
XM_011514302.1:c.2611T>C	XP_011512604.1:p.Ser871Pro
XM_011514299.2:c.3010T>C	XP_011512601.1:p.Ser1004Pro
XM_011514300.2:c.2830T>C	XP_011512602.1:p.Ser944Pro
XM_011514302.2:c.2611T>C	XP_011512604.1:p.Ser871Pro
XM_017010250.1:c.3724T>C	XP_016865739.1:p.Ser1242Pro
XM_017010251.2:c.2542T>C	XP_016865740.1:p.Ser848Pro
NM_080680.3:c.3724T>C MANE Select	NP_542411.2:p.Ser1242Pro
NM_080681.3:c.3466T>C	NP_542412.2:p.Ser1156Pro
NM_080679.3:c.3403T>C	NP_542410.2:p.Ser1135Pro