Canonical Allele Identifier: CA4817074

Gene: SDC2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96609391T>C , CM000670.2:g.96609391T>C	GRCh38
NC_000008.10:g.97621619T>C , CM000670.1:g.97621619T>C	GRCh37
NC_000008.9:g.97690795T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302190.9:c.449T>C MANE Select	ENSP00000307046.4:p.Ile150Thr
ENST00000302190.8:c.449T>C	ENSP00000307046.4:p.Ile150Thr
ENST00000518385.5:c.341T>C	ENSP00000429045.1:p.Ile114Thr
ENST00000519914.5:c.362T>C	ENSP00000428256.1:p.Ile121Thr
ENST00000521590.5:c.362T>C	ENSP00000429121.1:p.Ile121Thr
ENST00000522911.5:c.362T>C	ENSP00000427784.1:p.Ile121Thr
ENST00000523877.1:c.362T>C	ENSP00000429662.2:p.Ile121Thr
NM_002998.3:c.449T>C	NP_002989.2:p.Ile150Thr
XM_005251019.3:c.422T>C	XP_005251076.1:p.Ile141Thr
XM_005251020.2:c.362T>C	XP_005251077.1:p.Ile121Thr
XM_006716614.2:c.722T>C	XP_006716677.2:p.Ile241Thr
XM_011517211.1:c.566T>C	XP_011515513.1:p.Ile189Thr
XM_011517212.1:c.362T>C	XP_011515514.1:p.Ile121Thr
XM_011517212.3:c.362T>C	XP_011515514.1:p.Ile121Thr
XM_024447228.1:c.362T>C	XP_024302996.1:p.Ile121Thr
NM_002998.4:c.449T>C MANE Select	NP_002989.2:p.Ile150Thr