Canonical Allele Identifier: CA400601484

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914822G>A (hg19) ; chr17:g.63837462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837462G>A , CM000679.2:g.63837462G>A	GRCh38
NC_000017.10:g.61914822G>A , CM000679.1:g.61914822G>A	GRCh37
NC_000017.9:g.59268554G>A	NCBI36
NG_053004.1:g.10530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.268C>T
ENST00000698015.1:n.14C>T
ENST00000698016.1:c.239C>T	ENSP00000513502.1:p.Pro80Leu
ENST00000698021.1:c.43C>T
ENST00000698022.1:c.197C>T	ENSP00000513504.1:p.Pro66Leu
ENST00000698027.1:c.239C>T	ENSP00000513505.1:p.Pro80Leu
ENST00000448276.7:c.380C>T MANE Select	ENSP00000392617.2:p.Pro127Leu
ENST00000225742.13:c.155C>T	ENSP00000225742.9:p.Pro52Leu
ENST00000323347.14:c.236C>T	ENSP00000318451.10:p.Pro79Leu
ENST00000448276.6:c.380C>T	ENSP00000392617.2:p.Pro127Leu
ENST00000577686.1:n.53-225C>T
ENST00000580054.1:c.164C>T	ENSP00000463793.1:p.Pro55Leu
ENST00000584400.5:c.217-225C>T	ENSP00000464503.1:n.217-225C>T
ENST00000613943.4:c.269C>T	ENSP00000483605.1:p.Pro90Leu
NM_001098426.1:c.380C>T	NP_001091896.1:p.Pro127Leu
XM_005257604.2:c.155C>T	XP_005257661.2:p.Pro52Leu
NM_001330439.1:c.155C>T	NP_001317368.1:p.Pro52Leu
NM_001330440.1:c.236C>T	NP_001317369.1:p.Pro79Leu
NM_001098426.2:c.380C>T MANE Select	NP_001091896.1:p.Pro127Leu
NM_001330440.2:c.236C>T	NP_001317369.1:p.Pro79Leu