Canonical Allele Identifier: CA363616486

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132206C>G (hg19) ; chr6:g.33164429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164429C>G , CM000668.2:g.33164429C>G	GRCh38
NC_000006.11:g.33132206C>G , CM000668.1:g.33132206C>G	GRCh37
NC_000006.10:g.33240184C>G	NCBI36
NG_011589.1:g.33040G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.714G>C
ENST00000341947.7:c.4908G>C MANE Select	ENSP00000339915.2:p.Gln1636His
ENST00000341947.6:c.4908G>C	ENSP00000339915.2:p.Gln1636His
ENST00000361917.5:c.4587G>C	ENSP00000355123.1:p.Gln1529His
ENST00000374708.8:c.4650G>C	ENSP00000363840.4:p.Gln1550His
ENST00000477772.1:n.698G>C
NM_080679.2:c.4587G>C	NP_542410.2:p.Gln1529His
NM_080680.2:c.4908G>C	NP_542411.2:p.Gln1636His
NM_080681.2:c.4650G>C	NP_542412.2:p.Gln1550His
XM_011514298.1:c.4062G>C	XP_011512600.1:p.Gln1354His
XM_011514299.1:c.4194G>C	XP_011512601.1:p.Gln1398His
XM_011514300.1:c.4014G>C	XP_011512602.1:p.Gln1338His
XM_011514301.1:c.3951G>C	XP_011512603.1:p.Gln1317His
XM_011514302.1:c.3795G>C	XP_011512604.1:p.Gln1265His
XM_011514299.2:c.4194G>C	XP_011512601.1:p.Gln1398His
XM_011514300.2:c.4014G>C	XP_011512602.1:p.Gln1338His
XM_011514302.2:c.3795G>C	XP_011512604.1:p.Gln1265His
XM_017010250.1:c.4908G>C	XP_016865739.1:p.Gln1636His
XM_017010251.2:c.3726G>C	XP_016865740.1:p.Gln1242His
NM_080680.3:c.4908G>C MANE Select	NP_542411.2:p.Gln1636His
NM_080681.3:c.4650G>C	NP_542412.2:p.Gln1550His
NM_080679.3:c.4587G>C	NP_542410.2:p.Gln1529His