Canonical Allele Identifier: CA363616541

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164443-C-A
• MyVariant Identifiers: chr6:g.33132220C>A (hg19) ; chr6:g.33164443C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164443C>A , CM000668.2:g.33164443C>A	GRCh38
NC_000006.11:g.33132220C>A , CM000668.1:g.33132220C>A	GRCh37
NC_000006.10:g.33240198C>A	NCBI36
NG_011589.1:g.33026G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.700G>T
ENST00000341947.7:c.4894G>T MANE Select	ENSP00000339915.2:p.Val1632Leu
ENST00000341947.6:c.4894G>T	ENSP00000339915.2:p.Val1632Leu
ENST00000361917.5:c.4573G>T	ENSP00000355123.1:p.Val1525Leu
ENST00000374708.8:c.4636G>T	ENSP00000363840.4:p.Val1546Leu
ENST00000477772.1:n.684G>T
NM_080679.2:c.4573G>T	NP_542410.2:p.Val1525Leu
NM_080680.2:c.4894G>T	NP_542411.2:p.Val1632Leu
NM_080681.2:c.4636G>T	NP_542412.2:p.Val1546Leu
XM_011514298.1:c.4048G>T	XP_011512600.1:p.Val1350Leu
XM_011514299.1:c.4180G>T	XP_011512601.1:p.Val1394Leu
XM_011514300.1:c.4000G>T	XP_011512602.1:p.Val1334Leu
XM_011514301.1:c.3937G>T	XP_011512603.1:p.Val1313Leu
XM_011514302.1:c.3781G>T	XP_011512604.1:p.Val1261Leu
XM_011514299.2:c.4180G>T	XP_011512601.1:p.Val1394Leu
XM_011514300.2:c.4000G>T	XP_011512602.1:p.Val1334Leu
XM_011514302.2:c.3781G>T	XP_011512604.1:p.Val1261Leu
XM_017010250.1:c.4894G>T	XP_016865739.1:p.Val1632Leu
XM_017010251.2:c.3712G>T	XP_016865740.1:p.Val1238Leu
NM_080680.3:c.4894G>T MANE Select	NP_542411.2:p.Val1632Leu
NM_080681.3:c.4636G>T	NP_542412.2:p.Val1546Leu
NM_080679.3:c.4573G>T	NP_542410.2:p.Val1525Leu