Canonical Allele Identifier: CA400601393

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914580A>T (hg19) ; chr17:g.63837220A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837220A>T , CM000679.2:g.63837220A>T	GRCh38
NC_000017.10:g.61914580A>T , CM000679.1:g.61914580A>T	GRCh37
NC_000017.9:g.59268312A>T	NCBI36
NG_053004.1:g.10772T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.510T>A
ENST00000698015.1:n.53T>A
ENST00000698016.1:c.278T>A	ENSP00000513502.1:p.Met93Lys
ENST00000698020.1:n.208T>A
ENST00000698021.1:c.82T>A
ENST00000698022.1:c.236T>A	ENSP00000513504.1:p.Met79Lys
ENST00000698027.1:c.278T>A	ENSP00000513505.1:p.Met93Lys
ENST00000448276.7:c.419T>A MANE Select	ENSP00000392617.2:p.Met140Lys
ENST00000225742.13:c.194T>A	ENSP00000225742.9:p.Met65Lys
ENST00000323347.14:c.275T>A	ENSP00000318451.10:p.Met92Lys
ENST00000448276.6:c.419T>A	ENSP00000392617.2:p.Met140Lys
ENST00000577686.1:n.70T>A
ENST00000580054.1:c.203T>A	ENSP00000463793.1:p.Met68Lys
ENST00000584400.5:c.234T>A	ENSP00000464503.1:p.Asp78Glu
ENST00000613943.4:c.308T>A	ENSP00000483605.1:p.Met103Lys
NM_001098426.1:c.419T>A	NP_001091896.1:p.Met140Lys
XM_005257604.2:c.194T>A	XP_005257661.2:p.Met65Lys
NM_001330439.1:c.194T>A	NP_001317368.1:p.Met65Lys
NM_001330440.1:c.275T>A	NP_001317369.1:p.Met92Lys
NM_001098426.2:c.419T>A MANE Select	NP_001091896.1:p.Met140Lys
NM_001330440.2:c.275T>A	NP_001317369.1:p.Met92Lys